bluuebunny/crossref_metadata_2025 huggingface dataset:
Evidence for Size‐Selective Mortality after the First Summer of Ocean Growth by Pink Salmon
Authors: Moss Jamal H. , Beauchamp David A. , Cross Alison D. , Myers Katherine W. , Farley Edward V. , Murphy James M. , Helle John H.
Published: September 2005

Pink salmon Onchorhynchus gorbuscha with identifiable thermal otolith marks from Prince William Sound hatchery release groups during 2001 were used to test the hypothesis that faster‐growing fish during their first summer in the ocean had higher survival rates than slower‐growing fish. Marked juvenile pink salmon were sampled monthly in Prince William Sound and the Gulf of Alaska, and adults that survived to maturity were recovered at hatchery release sites the following year. Surviving fish exhibited significantly wider circuli spacing on the region of the scale formed during early marine residence than did juveniles collected at sea during their first ocean summer, indicating that marine survival after the first growing season was related to increases in early marine growth. At the same circuli, a significantly larger average scale radius for returning adults than for juveniles from the same hatchery would suggest that larger, faster‐growing juveniles had a higher survival rate and that significant size‐selective mortality occurred after the juveniles were sampled. Growth patterns inferred from intercirculi spacing on scales varied among hatchery release groups, suggesting that density‐dependent processes differed among release groups and occurred across Prince William Sound and the coastal Gulf of Alaska. These observations support other studies that have found that larger, faster‐growing fish are more likely to survive until maturity.
Developing Empathy as a Foundation of Client-Centred Practice: Evaluation of a University Curriculum Initiative
Authors: Jamieson Margaret , Krupa Terry , O'Riordan Anne , O'Connor Donna , Paterson Margo , Ball Caroline , Wilcox Susan
Published: September 2005

Background. The foundation of client-centred practice is the therapist's capacity to view the world through the client's eyes and to develop an understanding of the lived experience of disability. Purpose. This paper describes the evaluation of an educational initiative promoting student empathy to the lived experience of disability. Methods. Pairs of first-year occupational therapy students visited adults with disabilities who shared their knowledge and experience of living with a disability. Students reflected on their visits in journals, which were later analyzed using pattern matching. Findings. Students appeared to appreciate the co-existence of health and disorder and demonstrated a holistic understanding of living with a disability. Little attention was focused on cultural and institutional environments. Students struggled to define the nature of their relationship with their tutors. Practice Implications. The evaluation confirmed our belief that this educational initiative could facilitate student empathy, consistent with critical features of client-centred practice.
Pressure Ulcers and Occupational Therapy Practice: A Canadian Perspective
Authors: Giesbrecht Ed
Published: September 2005

Background. Occupational therapists are involved in the prevention and management of pressure ulcers. While many therapists identify challenges with their clinical practice in this area, there is little information available regarding specific occupational therapy interventions or effectiveness. Purpose. The goal of this study was to gain a national perspective of practice in Canada and identify directions and trends in the management of pressure ulcers. Method. A survey was distributed to occupational therapists at 75 facilities across Canada, soliciting information on intervention, practice issues and satisfaction with their practice. Results. Thirty-seven therapists from 36 facilities responded, answering questions about risk assessment tools, referral patterns, interventions and decision-making models, satisfaction with practice, intervention rationales, and recommendations for change. Risk assessment, early intervention and continuity of care were identified as concerns, with a lack of resources identified as a limitation to practice. Seating and positioning were common interventions. Practice Implications. This information can be used by clinicians to direct best practice and professional development goals. Further research is indicated in risk assessment, team collaboration and mattress prescription.
Listening for Recovery: The Vocational Success of People Living with Mental Illness
Authors: Woodside Harriet , Schell Lori , Allison-Hedges Jennifer
Published: September 2005

Background. Mental health occupational therapists work with some individuals who want employment but who are not successful at finding or keeping a job. Purpose. The purpose of this qualitative study was to suggest factors contributing to vocational success. Method. The investigators interviewed 8 participants who were recovering from psychosis. The interview texts were coded and analyzed for emerging themes. Results. Three themes emerged that describe how the participants achieved vocational success: self-assessing their mental health regularly, actively working to maintain and improve their mental health, and striving to feel connected to others at work. The results are consistent with previous studies that found that a positive fit between a worker and the workplace is linked to the worker feeling connected to and valued by the workplace. Practice Implications. This study suggests that supporting the ways individuals assess and promote their own mental health and recovery will contribute to their success at work. Occupational therapists are urged to help people find workplaces where they feel encouraged and comfortable as this appears to be an important factor in vocational success.
Thermodynamic modeling of hydrotrope solutions
Authors: Akia Mandana , Feyzi Farzaneh
Published: September 2005

A new model for the excess Gibbs energy of hydrotrope solutions is presented. This model is based on the local composition model by Chen et al. Hydrotropes are usually organic salts that can increase the solubility of organic and inorganic compounds in water. The proposed model has five adjustable parameters; one of them is related to long‐range forces, and four of them are related to short‐range forces. Long‐range forces are modeled by the Pitzer‐Debye‐Huckel equation. However, in our model, the effect of the molecular solute on the dielectric constant of water has also been considered. Modeling of short‐range forces is based on local composition concepts. The model parameters are obtained using experimental data for six hydrotropes with four solutes at different temperatures. The water solubility of molecular solutes in the presence of hydrotropes has been calculated for different systems. Accurate results are obtained. © 2005 American Institute of Chemical Engineers AIChE J, 2006
Effect of partial flocculation and adsorption as pretreatment to ultrafiltration
Authors: Shon H. K. , Vigneswaran S. , Ngo H. H.
Published: September 2005

In this study, the sufficiency of flocculation and adsorption with reduced doses of ferric chloride and powdered activated carbon (PAC) as pretreatment to ultrafiltration (UF) was investigated. A 50 mg/L dose of FeCl3 and 0.5 g/L of PAC removed a majority of organic matter (OM; 88%), thus reducing the organic loading on UF that was used as posttreatment. Although flocculation with lower doses of FeCl3 (10 mg/L) followed by PAC adsorption of 0.5 g/L and UF removed the same amount of organics (∼88% OM), the majority of the OM removal was by the posttreatment of UF rather than by pretreatment, resulting in a significant decline of flux in UF. A detailed relative molecular mass (RMM) distribution analysis was made with flocculation, adsorption, and UF permeates. PAC adsorption decreased the majority of the relative intensity of smaller RMM of OM from the preflocculated water. Flocculation with <40 mg/L FeCl3 was not sufficient to remove the relative intensity of the large RMM even after a postadsorption. The detailed analysis on weight‐averaged RMM (Mw) indicated that the Mw values of OM in the wastewater and in the flocculated effluent were 29,800 daltons (initial), >25,000 (after flocculation with ≤40 mg/L FeCl3), and <1000 (after flocculation with ≥50 mg/L FeCl3). © 2005 American Institute of Chemical Engineers AIChE J, 2006
The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini‐Holmes‐Walton syndrome): Report of two patients
Authors: Mendez Heirie M. M. , Paskulin Giorgio A. , Vallandro Claudia , Opitz John M. , Reynolds James F.
Published: September 2005

We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK‐26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.
Partial duplicaton of distal 17q
Authors: Bridge Julie , Sanger Warren , Mosher Gayle , Buehler Bruce , Hearty Christine , Olney Ann , Fordyce Renee , Opitz John M. , Reynolds James F.
Published: September 2005

A male propositus and an older sister had a similar pattern of congenital anomalies, including facial asymmetry with hypertelorism, frontal bossing and temporal narrowness, a broad nasal bridge, epicanthal folds, a wide mouth with a thin upper lip, micrognathia, webbed neck, low‐set posteriorly angulated ears, and an abnormal hairline. There was also postaxial polydactyly, flexion contractures of the digits, hypotonia, and a congenital heart anomaly. The propositus also had renal anomalies whereas the sister did not, and the sister had a cleft lip and palate not present in her brother. The propositus and a subsequent fetus identified through genetic amniocentesis were determined to have a 46,XY, − 18,+der(18),t(17;18)(q25.1;q23)mat chromosome constitution. Clinical findings are compared to those of other reported cases of dup(17q).
Lethal neonatal chondrodysplasias in the west of scotland 1970–1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant
Authors: Connor J. M. , Connor R. A. C. , Sweet E. M. , Gibson A. A. M. , Patrick W. J. A. , McNay M. B. , Redford D. H. A. , Opitz John M. , Reynolds James F.
Published: September 2005

Complete ascertainment of lethal neonatal short‐limb chondrodysplasias was attempted in the West of Scotland for the period 1970–1983. Forty‐three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well‐delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 ± 4.1 × 10−6 mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata—second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).
Identity‐by‐descent analysis of sibship configurations
Authors: Ethier S. N. , Hodge Susan E. , Opitz John M. , Reynolds James F.
Published: September 2005

This study considers configurations of identity‐by‐descent sharing in sibships as an alternative to breaking the sibship into sib pairs. A general method is presented for specifying all distinct configurations and deriving their probabilities. The method works for sibships of arbitrary size and can be implemented with paper and pencil. Specific results are given for sibships up to size six. Applications for disease‐marker studies are discussed.
Cystic hygroma and hydrops fetalis in dup(11p) syndrome
Authors: Fryns J. P. , Kleczkowska A. , Vandenberghe K. , Moerman F. , Van den Berghe H. , Opitz John M. , Reynolds James F.
Published: September 2005

Cystic hygroma and hydrops fetalis are reported in a male fetus with dup(11p) syndrome.
Smith‐Fineman‐Myers syndrome: Report of a third case
Authors: Stephenson Lorena D. , Johnson John P. , Opitz John M. , Reynolds James F.
Published: September 2005

Smith et al [1980] described two brothers with mental retardation, short stature, and unusual facial appearance. Here we describe an unrelated male who resides in the same institution and who appears to have the same condition. This syndrome is probably inherited in an autosomal or X‐linked recessive manner.
Significance of acquired nonrandom 7/14 translocations
Authors: Reddy Kavita S. , Thomas Irene M.
Published: September 2005

We have detected eight patients with a single metaphase having a 7/14 translocation. In all cases, the breakpoint on chromosome 14 was 14q12, while the breakpoint on chromosome 7 was 7q35 in three cases and 7p13 in five cases. The factors that may be involved in these nonrandom translocations are discussed.
Report of a case and further delineation of the SHORT syndrome
Authors: Toriello Helga V. , Wakefield Susan , Komar Karl , Higgins James V. , Waterman Donald F. , Opitz John M. , Reynolds James F.
Published: September 2005

We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.
Familial aggregation of small congenital nevomelanocytic nevi
Authors: Rhodes Arthur R. , Slifman Nancy R. , Korf Bruce R. , Opitz John M. , Reynolds James F.
Published: September 2005

We investigated the genetic aspects of congenital nevomelanocytic nevi (CNN) by comparing the prevalence rate of CNN in sibs of probands to that of CNN in newborn infants. Probands included all individuals with small (< 40 mm) CNN registered photographically during 1982 in a children's hospital dermatology service. A CNN was defined on the basis of gross appearance and presence (according to parents) within the first 2 weeks of life. The 39 probands with small CNN had a total of 65 sibs. Eight of the 65 (12.3%) also had one or more small CNN. This prevalence rate in sibs is 11 times the population‐based prevalence rate of CNN in newborn infants (1.1%) based on a published report surveying newborn infants in the same city within the past decade. In five of our 39 study families we also detected an affected parent with CNN. We conclude that small CNN may aggregate in families. Autosomal dominant inheritance with incomplete penetrance or multifactorial determination could account for this observation.
Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother
Authors: Fujimoto Atsuko , Lin Ming S. , Korula Shirley R. , Wilson Miriam G. , Opitz John M. , Reynolds James F.
Published: September 2005

A 2‐year‐old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.
Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome)
Authors: Toriello Helga V. , Sharda Joan K. , Beaumont Edgar J. , Opitz John M. , Reynolds James F.
Published: September 2005

Kousseff [1984] reported on three sibs with an autosomal recessive syndrome of sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck. We report on a fourth case and discuss the findings from a developmental field perspective and the ramifications for genetic counseling.
Cystic fibrosis in Ontario
Authors: Sturgess J. M. , Czegledy‐Nagy E. , Corey M. , Thompson M. W. , Opitz John M. , Reynolds James F.
Published: September 2005

The incidence of cystic fibrosis in Ontario, Canada has been determined from clinical data, from the cystic fibrosis database of the Hospital for Sick Children, Toronto, and from population statistics in the Province of Ontario. The survey included 420 confirmed cases of cystic fibrosis born during the period 1966–1980. The mean incidence during this period was one in 2,927. In the last 5‐year period, a decline was noted in incidence that may have reflected in part the effectiveness of early diagnosis and genetic counseling in affected families. During the period of the survey, over 60% of cases were diagnosed within the first year of life, 74% by age 2 years, and 90% by age 5 years. Clinical diagnosis in the first year of life was more common in males (65%) than in females (54%), a consistent finding during the period of the survey. The incidence of meconium ileus was 15.7% of ascertained cases of cystic fibrosis, with similar incidences in males (16.4%) and females (14.4%). Although survival has not been the subject of this survey, mortality in the neonatal period was significantly higher in males than in females with cystic fibrosis.
Chorionic villi sampling: Women's attitudes
Authors: Lippman Abby , Mandel Sonia , Perry Tracy B. , Cartier Lola , Opitz John M. , Reynolds James F.
Published: September 2005

To determine the acceptability of chorionic villi sampling (CVS) to women eligible for prenatal diagnosis, we undertook a survey to identify aspects of this new procedure that made it more or less preferable than amniocentesis. All women ≥ 35 years scheduled for amniocentesis were asked to read some detailed descriptive material about amniocentesis and CVS, to rate the importance of the specific differences between procedures, and to indicate which procedure they would prefer, first considering each difference between them independently and then considering all the factors jointly. In the absence of precise estimates of CVS‐associated risk at the time of the survey, almost equal proportions preferred amniocentesis and CVS (50.2 and 45.1%, respectively). Risk information was the most important factor to women preferring amniocentesis; the timing of the test or nature of the termination procedure was most important to those preferring CVS. In the hypothetical case where CVS was stipulated to have the same attributable risk as amniocentesis, 82% of respondents would prefer it. However, if the spontaneous abortion rate following CVS was stipulated to be 5% more than the amniocentesis risk, preferences reversed and only 22% would still prefer it. Thus, the data suggest that the ultimate acceptability of the new procedure for women over 35 years seeking prenatal diagnosis will depend on the risk associated with it and underscore the importance of ongoing trials aimed at establishing this risk.
A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis
Authors: Dunn Betty G. , Ferrell Robert E. , Riccardi Vincent M. , Opitz John M. , Reynolds James F.
Published: September 2005

A linkage analysis between the gene for von Recklinghausen neurofibromatosis (NF) and 21 genetic markers was carried out using the computer program LIPED. The study group included 15 families composed of 84 individuals, 51 of whom were affected with NF; there were six three‐generation families and nine two‐generation families. Lod scores excluded tight linkage (Z < −2.0) between eight genetic markers and NF and were inconclusive for nine markers. Four markers were not informative. The analysis failed to confirm either the previously suggested linkage between NF and the plasma vitamin D‐binding protein Gc or the possibility of linkage of NF to the secretor locus suggested by reports of two families segregating for NF and myotonic dystrophy.
The Familial Occurrence of Lymphocytic Thyroiditis in Borzoi dogs
Authors: Conaway Dale H. , Padgett George A. , Nachreiner Raymond F. , Prieur David J
Published: September 2005

A group of related borzoi dogs were studied over a 6‐year period to ascertain the cause of primary hypothyroidism. Four generations of dogs were analyzed. Two littermates with lymphocytic thyroiditis were mated and the 10 offspring were all diagnosed, on the basis of thyroid biopsy evaluation, as having lymphocytic thyroiditis by age 2.5 years. A wide range of thyroid gland lesions was demonstrated in this litter of dogs.

This report documents the occurrence of lymphocytic thyroiditis in three successive generations of an inbred group of borzoi dogs. An autosomal recessive mode of inheritance for the trait in this group of dogs is proposed.
Excess thymidine induces folate sensitve fragile sites
Authors: Sutherland Grant R. , Baker Elizabeth , Fratini Antonio , Opitz John M. , Reynolds James F.
Published: September 2005

Folate sensitive fragile sites on human chromosomes have been found to be inducible in cultured lymphocytes by high levels of thymidine but not by high levels of BrdU. The biochemical interpretation of events leading to fragile site expression has been revised since it is now clear that low levels of either thymidylate or deoxycytidine triphosphate will result in this phenomenon. A model for the DNA at a fragile site, composed of alternating repeating polypurine/polypyrimidine sequences is proposed.
Autosomal recessive Robinow‐like syndrome with anterior chamber cleavage anomalies
Authors: Saal Howard M. , Greenstein Robert M. , Weinbaum Paul J. , Poole Andrew E.
Published: September 2005

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cieavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomaiies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.
A child with sclerocornea, short limbs, short stature, and distinct facial appearance
Authors: Thompson Elizabeth M. , Winter Robin M. , Opitz John M. , Reynolds James F.
Published: September 2005

We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
Association of double nor variant with Turner syndrome
Authors: Jones Carolyn , Ahmed I. , Cummings Michael R. , Rosenthal Dr Ira M.
Published: September 2005

A study was made of the possible association of double nucleolus organizers (dNORs) with Turner syndrome. Occurrence of dNORs was determined using the silver staining method of Goodpasture and Bloom [1975]. In 45 control subjects, the incidence of dNORs was 8.8%. Studies were done on 33 Turner syndrome patients. In 28 cases with 45,X or 45,X/46,XX karyotypes, the incidence of the dNOR variant was 50%. Five cases of Turner syndrome with X rings or X isochromosomes were negative for dNORs. Analysis of the data indicates an association between the dNOR variant and the occurrence of Turner syndrome. It is proposed that the presence of the dNOR variant can increase the rate of nondisjunction of the X chromosome in meiosis or in mitotic divisions during early gestation.
Caudal deficiency sequence in 7q terminal deletion
Authors: Schrander‐Stumpel Constance , Schrander Jaap , Fryns Jean‐Pierre , Hamers Guus , Opitz John M. , Reynolds James F.
Published: September 2005

We describe a male infant with signs of caudal deficiency sequence. In addition, he showed growth retardation, microcephaly, prominent forehead, bulbous nose tip, large dysplastic ears, hypospadia, partial sacral agenesis, and neurologic bladder dysfunction. Chromosome examination showed a terminal 7q deletion 46, XY, del(7)(pter→q32:). Four previous reported cases of 7q terminal deletion and signs of caudal deficiency are reviewed. Chromosome aberrations may, at least in some cases, be responsible for developmental defects.
The Hand‐Foot‐Genital (Hand‐Foot‐Uterus) syndrome: Family report and update
Authors: Halal Fahed , Opitz John M. , Reynolds James F.
Published: September 2005

Four individuals from three generations of a family had the Hand‐Foot‐Genital (Hand‐Foot‐Uterus) syndrome. Affected females had urologic abnormalities confirming that the latter are part of the syndrome.
Trisomy 18 associated with ectopia cordis and occipital meningocele
Authors: Bick David , Markowitz Richard I. , Horwich Arthur , Opitz John M. , Reynolds James F.
Published: September 2005

A premature infant presented with ectopia cordis, occipital meningocele, and manifestations of trisomy 18; cytogenetic analysis confirmed a 47,XX,+ 18 chromosome constitution. While most cases of ectopia cordis appear as isolated, sporadic defects, careful evaluation is warranted to detect evidence of an associated chromosome abnormality.
A mouse malformation mutant supplement to the London Dysmorphology Database
Authors: Winter R. M. , Opitz John M. , Reynolds James F.
Published: September 2005

A mouse malformation mutant supplement to the London Dysmorphology Database is described. Using a microcomputer, the mouse malformation database can be searched by asking for all mutants with a specific combination of physical abnormalities. The database is available free to interested researchers on receipt of two 5¼ floppy disks.
Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann‐Beckwith syndrome
Authors: Litz Craig E. , Taylor Kimberly A. , Qiu J. S. , Pescovitz Ora H. , De Martinville Bérengère , Opitz John M. , Reynolds James F.
Published: September 2005

Monozygotic twins discordant for the Wiedemann‐Beckwith syndrome (WBS) were studied by cytogenetic and molecular methods to determine if a genetic lesion could be detected in the affected child. Probes known to be localized on the short arm of chromosome 11 and a low copy‐repetitive probe were used. No genetic lesions could be ascertained in normal or affected tissue obtained from the WBS twin.
The mild form of Menkes disease: Progress report on the original case
Authors: Danks D. M.
Published: September 2005

In 1981 we reported a patient with a mild form of Menkes disease [Procopis et al., 1981]. He presented at the age of 21 months with delayed motor and speech development due principally to severe cerebellar ataxia. Hair abnormality and facial appearance had suggested Menkes disease, but a serum copper level at the lower limit of normal had shaken confidence in this diagnosis. Copper levels in liver, intestinal mucosa and cultured fibroblasts showed the abnormalities expected in Menkes disease. The family history did not allow the mode of inheritance to be determined.

We report on progress of this patient, now 10 years old. He has been treated with injections of copper histidinate for most of the intervening time. The results of studies on a subsequent pregnancy support X‐linked inheritance.
Duplication of a small segment of 5p due to maternal recombination within a paracentric shift
Authors: Webb Graham C. , Voullaire Lucille E. , Rogers John G.
Published: September 2005

Duplication of chromosome sub‐bands 5p14.3 and 5p15.1 in a child resulted in mild mental retardation, apparently without other abnormalities. The duplicated region arises from recombination within a directly inserted segment following a shift within the short arm of the maternal chromosome 5 homologs.
Asymmetric Marfan syndrome
Authors: Burgio Roberto G. , Martini Alberto , Cetta Giuseppe , Zanaboni Giuseppe , Vitellaro Laura , Danesino Cesare
Published: September 2005

We describe a girl with Marfan syndrome in whom the clinical expression of the disease was much more evident on the left side of the body.
Myelomeningocele, Arnold‐Chiari anomaly and hydrocephalus in focal dermal hypoplasia
Authors: Almeida L. , Anyane‐Yeboa K. , Grossman M. , Rosen T.
Published: September 2005

Focal dermal hypoplasia (FDH) is an X‐linked dominantly inherited syndrome of cutaneous, skeletal, dental, ocular, and soft tissue defects. We report on a female infant with FDH with the first observation of myelomeningocele with hydrocephalus and Arnold‐Chiari malformation.
Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother
Authors: Urioste M. , Valcarcel E. , Gomez M. A. , Pinel I. , de León R. Garcia , de Bustamante A. Diaz , Tebar R. , Martinez‐Frias M. L.
Published: September 2005

This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a suprarbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.
The ermine phenotype: Pigmentary‐hearing loss heterogeneity
Authors: O'Doherty N. J. , Gorlin R. J.
Published: September 2005

The term ermine phenotype has been chosen to describe patients with white hair with black tufts. The patients also have sensorineural hearing loss. This rare phenotype may come about either by failure of migration of melanocytes or by an autoimmune mechanism. Examples of each are cited. The authors describe a possible third type. Comparison with other pigment loss‐sensorineural hearing loss syndromes is made.
Autosomal dominant benign neonatal seizures
Authors: Cunniff Christopher , Wiedlin Nancy , Jones Kenneth Lyons
Published: September 2005

Eight individuals in two generations of a family experienced seizures neonatally or in early infancy. Evaluation in two of these infants documented an EEG pattern suggestive of seizure actiity without discernible pthogenesis of their seizures. Subsequently, affected individuals had a normal neurodevelopmental outcome, although one person had later epilepsy. The benign course of this disorder and its association with adult epilepsy agree with previously reported cases from the literature.
Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defects
Authors: Webster William S. , Lipson Anthony H. , Sulik Kathleen K. , Opitz John M. , Reynolds James F.
Published: September 2005

During the third week of pregnancy the human embryo undergoes a major developmental process, gastrulation, during which the two‐layered embryo is converted into a three‐layered embryo. At the same time, the upper epiblast layer is induced to form the neural plate. Evidence is presented which suggests that interference with this process by genetic, physical, or chemical agents can cause a range of CNS abnormalities and facial abnormalities, including those described as characteristic of the FAS.
Evaluating the uncertainty of risk prediction in genetic counseling: A Bayesian approach
Authors: Rogatko André , Opitz John M. , Reynolds James F.
Published: September 2005

A general method to obtain the exact point estimate and the measure of uncertainty of recurrence risks for genetic counseling is present. This method, which follows Bayesian estimation theory, can be applied without restrictions of sample size, class of risk function, or parameter dimension. As an illustration, the recurrence risks for isolated cases in two autosomal dominant disorders with incomplete penetrance (mandibulofacial and fontonasal dyostoses) are estimated.
Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder
Authors: Chitayat David , Nakagawa Sachiko , Marion Robert W. , Sachs Gay S , Hahm Sue Y. E. , Goldman Harold S. , Opitz John M. , Reynolds James F.
Published: September 2005

We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow‐up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro‐orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.
Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy
Authors: Richieri‐Costa A. , de Miranda E. , Fraser F. Clarke , Reynolds James F.
Published: September 2005

We report on a Brazilian boy presenting short stature, small ears with mild overfolding of the helices, monodactylous tetraectrodactyly and cleft palate. We suspect that he has a previously undescribed syndrome of presently unknown cause.
Invited essay on the psychological aspects of genetic counseling. V. preselection: A family coping strategy in Huntington disease
Authors: Kessler Seymour , Opitz John M. , Reynolds James F.
Published: September 2005

Preselection refers to the “sick” ‐role assignment given to an asymptomatic individual in a family in which a genetic or other disorder with multiple uncertainties occurs. The selection process is made, often when the preselected person is still a child, without knowledge of who eventually will be affected. The process requires the collusion of the family members for its initiation and maintenance and serves as a major coping strategy to reduce or bind the stresses and anxieties engendered by uncertainty. Preselection is seen often in families in which Huntington disease occurs and is promoted by the delayed age of onset of the disorder and the uncertain gene status of the person at risk.
The Perrault syndrome: Clinical report and review
Authors: Nishi Yoshikazu , Hamamoto Kazuko , Kajiyama Michi , Kawamura Ichiro , Opitz John M. , Reynolds James F.
Published: September 2005

We report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They also had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. One older affected sister had partial growth hormone deficiency. Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysgenesis and deafness, 3 deaf males without gonadal defect, one a woman with ovarian dysgenesis without deafness, and one a girl with deafness in whom ovarian function was not evaluated. Perrault syndrome may not be uncommon; some cases may have gone unrecognized, especially when a single child in a family is affected.
Piebaldism‐Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome
Authors: Kaplan Paige , De Chaderévian Jean‐Pierre , Opitz John M. , Reynolds James F.
Published: September 2005

Piebaldism, an autosomal dominant trait, is characterized by patchy hypopigmentation of the face, anterior chest, abdomen, and limbs, heterochromia/bicolored irises, congenital megacolon, and deafness. A 4‐month‐old Inuit (Eskimo) boy with these manifestations also had left pulmonic artery stenosis, ocular ptosis, and unilateral duplication of the renal collecting system. Evidence is presented for both qualitative and quantitative derangement of neural crest derivatives in this syndrome. Histologically, hypoganglionosis, hyperganglionosis, and ectopic ganglia in lamina propria (neuronal colonic dysplasia [NCD]) were documented in the rectum. The appendix, proximal to the clinical transition zone, showed similar dysplasia. In the hypopigmented skin, multiple microscopic sections were devoid of melanocytes, with no melanin in adjacent basal cells. The hyperpigmented skin contained melanin throughout the basal layer, but the melanocytes were unevenly distributed. Most tissues affected in this boy are of neural crest origin; pathogenesis could be due to faulty migration along the established pathways involving either the borders (basal laminae) or the components of the extracellular matrix (fibronectin, cytotactin, laminin, glycosaminoglycans, and collagen). The similarities between piebaldism and the Waardenburg syndromes are discussed.
Transmission of ring 14 chromosome from mother to two sons
Authors: Matalon Reuben , Supple Peggy , Wyandt Herman , Rosenthal Ira M.
Published: September 2005

We report on a family with transmission of a ring chromosome 14 from an affected mother to her 2 sons. The mother was mosaic, 46,XX,r(14)/45,XX,t(14q21q). Both of her sons, affected by seizures and mental retardation, have the karyotype 46,XY,r(14). In considering the association of translocation 14:21 in the mother with ring 14, we postulate that either the ring chromosome was formed first and then opened with translocation of the partially deleted chromosome 14 to chromosome 21, or the 14:21 translocation was present first, then the chromosomes 14 and 21 broke apart, and the partially deleted 14 formed the ring. The published literature of cases of ring 14 is reviewed.
Beukes familial hip dysplasia: An autosomal dominant entity
Authors: Cilliers H. J. , Beighton P.
Published: September 2005

An unique inherited skeletal disorder had been identified in 47 patients in 6 generations of an Afrikaner family in Southern Africa. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra‐skeletal involvement. The major changes are in the femoral capital epiphyses, which are severely flattened and irregular; secondary osteoarthrosis develops at an early age.

Pedigree data indicate autosomal dominant inheritance with a reasonably consistent phenotypic expression. In view of the fact that only members of the Beukes family have been identified as suffering from the condition, the designation “Beukes familial hip dysplasia” (BFHD) is proposed.
Interstitial deletion involving most of Yq
Authors: Skare James , Drwinga Helen , Wyandt Herman , VanderSpek Johanna , Troxler Robert , Milunsky Aubrey
Published: September 2005

Males with a Yq deletion are well described, but few have been studied with both cytogenetic and molecular techniques to define the deletion and relate it to the phenotype. This study reports an analysis of cells obtained from a college student with azoospermia, short stature, and a small penis. Cytogenetic analysis indicated that the entire Yq was deleted, but DNA hybridization showed that a portion of Yq12 remained. We conclude that the deletion is interstitial.
Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia
Authors: Jones Susan M. , Robinson Luther K. , Sperrazza Ralph
Published: September 2005

A short‐limb skeletal dysplasia was diagnosed prenatally at 35 weeks of gestation. After birth the infant was found to have hypochondroplasia. The parents are of average stature, and the child's disorder presumably occurred as a fresh mutation. This appears to be the first reported case of hypochondroplasia diagnosed prenatally as a “non‐specific skeletal dysplasia” in the absence of a family history. Evaluation after birth showed that the infant, whose parents are of normal stature, has hypochondroplasia.
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex
Authors: Finley Wayne H. , Callahan Alston , Thompson Jerry N.
Published: September 2005

Maternal and paternal age and birth order of 14 sporadic cases of the autosomal dominant blepharophimosis‐ptosis–epicanthus inversus–telecanthus (BPEI) phenotype were compared to similar statistics from control individuals. Correlation coefficients were determined for paternal age and incidence, maternal age and incidence, and birth order and incidence. The partial correlation coefficient of the father's age and incidence with maternal age and birth order held constant was −0.02 and that for the mother's age and incidence with paternal age and birth order held constant was 0.57. Maternal age seems to have a stronger influence than the paternal age in this group of BPEI patients.
Blood serotonin and tryptophan in Tourette syndrome
Authors: Comings David E.
Published: September 2005

Blood serotonin and tryptophan levels were studied in 1,440 individuals. These included patients with Tourette syndrome (TS), attention deficit hyperactivity disorder (ADHA), or ADHD with a family history of TS (ADHD 2° TS); relatives (parents, sibs) of these patients; other patients with TS‐like disorders; and controls.

There were significant decreases in the serotonin/platelet ratio (P = 0.0001) and in tryptophan (P < 0.0001) in unmedicated patients with TS. Parents of TS patients showed a comparable, significant decrease in serotonin/platelet ratio (P<0.0001) and in tryptophan (P<0.0001), and there was no difference between parents with and without symptoms. This suggested that these were trait markers for the Gts gene and agrees with the proposal that TS patients are homozygous for Gts gene and that both parents are Gts gene carriers.

Although there was no decrease in the serotonin/platelet ratio in ADHD patients, tryptophan levels were significantly decreased and there was a significant decrease in both the serotonin/platelet ratio and in tryptophan in the parents of patients with ADHD including those without a family history of TS. This is consistent with a close link between TS and ADHD. The basic defect may be a dysregulation of serotonin metabolism.

The low blood serotonin and tryptophan levels in TS are consistent with the wide range of behavioral disorders seen in TS and suggest tryptophan oxygenase as a possible candidate gene.
Enamel defects: A developmental marker for hemifacial microsomia
Authors: Johnsen David C. , Weissman Barbara M. , Murray Gail S. , Zinn Arthur B.
Published: September 2005

We have observed primary tooth enamel defects in 4 children with hemifacial microsomia. The distribution of enamel defects was concordant with the laterality of craniofacial anomalies in these patients and was most pronounced on the maxillary incisors. Since the location of enamel defects serves as a chronicle for the events of tooth formation, we propose that enamel defects may serve as a developmental marker for the events leading to hemifacial microsomia.
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: A case report
Authors: Pijpers Leen , Kleijer Wim J. , Reuss Annette , Jahoda Milena G. J. , Los Frans J. , Sachs Eva S. , Wladimiroff Juriy W.
Published: September 2005

We report on a 32‐year‐old G3P2 woman at increased risk of argininosuccinic aciduria in her offspring. In her first infant, the disease was diagnosed at age 3 months. In the second pregnancy, the disorder was excluded following incorporation of radio‐labeled 14C‐citrul‐line in intact chorionic villi obtained through transcervical chorionic villus sampling at 10 weeks gestation. Twins were diagnosed in the third pregnancy. Separate transabdominal chorionic villus sampling of both fetuses was carried out at 10 weeks gestation. Chromosome analysis demonstrated a normal male and female karyotype. Incorporation of radio‐labeled 14C‐citrulline in intact villi was deficient in both villus samples, establishing the diagnosis of argininosuccinic aciduria in both fetuses. The present results confirm the reliability of direct analysis of villi for the diagnosis of argininosuccinic aciduria.
Multiple gastrointestinal atresias with imperforate anus: Pathology and pathogenesis
Authors: Shen‐Schwarz Susan , Fitko Rosanne
Published: September 2005

The syndrome of hereditary multiple gastrointestinal atresias is characterized by multiple and widespread atresias from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal course with an autosomal recessive mode of inheritance. We review 18 cases reported in the literature and one additional case in an infant with imperforate anus. The anatomical and histological characteristics of the atresias suggest a failure ofrecanalization of the embryonic intestinal lumen. The association between multiple atresias and imperforate anus supports the hypothesis that this disorder is a malformation syndrome caused by a defect in the development of the gastrointestinal tract.
Rapp‐Hodgkin syndrome: Report of a Brazilian family
Authors: Rodini E. O. S. , Freitas J. A. S. , Richieri‐Costa A.
Published: September 2005

We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp‐Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1‐2‐3‐4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.
Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations
Authors: Kolodny Edwin H. , Firon Nurit , Eyal Nurit , Horowitz Mia
Published: September 2005

Seven members of an Ashkenazi Jewish family with Gaucher disease in 3 successive generations were tested for the presence of the 2 common mutations known to occur in the glucocerebrosidase gene. Genomic DNA from blood or skin fibroblasts of relatives was amplified by using the PCR technique and individual mutations identified by oligonucleotides specific to the mutated sequences. Four individuals were homozygous for a mutation at amino acid 370 (370 mutation) known to occur only in type 1 disease. The other 3 affected relatives were compound heterozygotes for this mutation and for a mutation at amino acid 444 (Ncil mutation) which, in the homozygous state, is associated with neurological disease. Clinical severity was more marked in the compound heterozygotes than in the homozygotes. Since the mutation is present in Ashkenazim, molecular diagnosis in families which carry the Ncil mutation should prove useful in assessing their risk of the neurologic forms of Gaucher disease.
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: The Zlotogora‐Ogur syndrome
Authors: Rodini Elaine S. O. , Richieri‐Costa A.
Published: September 2005

We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2–3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheri‐tance are discussed.