bluuebunny/crossref_metadata_2025_split huggingface dataset:
The CFC syndrome—report of the first two cases outside the United States
Authors: Neri Giovanni , Sabatino Giuseppe , Bertini Enrico , Genuardi Maurizio , Opitz John M. 
Published: June 2005

AbstractWe report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.
Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South africa
Authors: Rosendorff Jennifer , Bernstein Renée , Macdougall Lorna , Jenkins Trefor , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have investigated the prevalence of homozygous and heterozygous Fanconi anemia (FA) in the Afrikaans community of the southern Transvaal Province. The minimum birth incidence of FA in white, Afrikaans‐speaking South Africans was estimated to be 1 in 22,000, with the calculated heterozygote prevalence being approximately 1 in 77. Alternatively, based on a point prevalence of 1 in 26,000, the carrier rate may be estimated as 1 in 83. It is postulated that this unusually high frequency of the gene for FA is attributable to founder effect.
Neonatal manifestations of Schwartz‐Jampel syndrome
Authors: Farrell S. A. , Davidson R. G. , Thorp P. , Reynolds James F. 
Published: June 2005

AbstractSchwartz‐Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed.
Wrinkly skin syndrome: Phenotype and additional manifestations
Authors: Casamassima Anthony C. , Wesson Stanton K. , Conlon Charles J. , Weiss Fred H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardation. Our patient is characteristic of the syndrome as previously described, and confirms the presence of mental retardation and microcephaly as component manifestations, with the additional findings of connective tissue abnormalities evidenced by an atrial septal aneurysm.
Dextrocardia with and without situs viscerum inversus in two sibs
Authors: Distefano Giuseppe , Romeo Mario G. , Grasso Sebastiano , Mazzone Domenico , Sciacca Pietro , Mollica Florindo , Neri Giovanni 
Published: June 2005

AbstractWe describe two sibs born to consanguineous Sicilian parents who died of severe congenital heart malformation. Both had dextrocardia; however, only the girl had situs viscerum inversus. At necropsy she was found to have a right spleen and right pulmonary isomerism (three lobes in each lung, as commonly found in the asplenia syndrome). This observation, together with other literature reports, suggest that isolated dextrocardia, situs viscerum inversus, and the asplenia‐poly‐splenia complex may be different end results of a unique dysmorphogenetic process involving the embryonic midline.
Hydrolethalus syndrome: Report of an apparent mild case, literature review, and differential diagnosis
Authors: Aughton David J. , Cassidy Suzanne B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present an infant with manifestations of the hydrolethalus syndrome who has survived for over 5 months; previously, the longest survival reported in this condition has been 2 days. The literature is reviewed and the clinical and pathological findings of our patient are compared with those of the 50 previously reported cases. The differential diagnosis of the condition is discussed.
Atypical phenotype associated with deletion (15) (pter → q11::q13 → qter)
Authors: Reynolds James F. , Daniel Art , FitzGerald Joan , Opitz John M. 
Published: June 2005

AbstractWe report on a 10‐year‐old boy with an interstitial deletion within the region of bands 15q11 → q13. Authors have associated the manifestation of the Prader‐Willi syndrome (PWS) with variable deletions involving the bands q11 → q13. Our patient had atypical manifestations not usually associated with PWS, ie, normal stature, proportionally sized hands and feet, normal genitalia, and was nonambulatory and severely mentally retarded. This case emphasized the clinical diversity seen in proximal 15q deletions in the region considered to be correlated with the PWS.
Follow‐up on seven adult patients with mild Sanfilippo B‐disease
Authors: Valk H. M. J. Van Schrojenstein‐de , van de Kamp J. J. P. , Reynolds James F. 
Published: June 2005

AbstractThis report describes 7 patients, aged 30 to 43 years, suffering from a mild variant of Sanfilippo B‐disease. Somatic findings in these patients are unremarkable. Dementia and behavioral disturbances occurred late in the course of the disease. All 7 patients were examined 10 years previous to this study and reported in earlier publications [van de Kamp et al, 1976, 1981].
Syndrome of osteopetrosis and muscular degeneration associated with cerebro‐oculo‐facio‐skeletal changes
Authors: Lerman‐Sagie Tally , Levi Yael , Kidron Deborah , Grünebaum Michael , Nitzan Menachem , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe an infant with cerebro‐oculo‐facio‐skeletal manifestations, radiologic and pathologic findings of osteopetrosis, and severe myopathic degeneration proven on histopathologic study of muscles. The muscle changes appear to be part of the pathogenetic process in this syndrome and the cause of the flexion contractures present at birth. Real‐time ultrasonography may prove a useful tool in prenatal diagnosis of this syndrome.
A nonpathologic allele (IW) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome
Authors: Whitley Chester B. , Gorlin Robert J. , Krivit William , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe identified a phenotypically normal obligate heterozygote for Hurler syndrome with exceedingly low levels of α‐L‐iduronidase enzyme activity. Subsequent investigation determined that low α‐L‐iduronidase activity was systemic, also characteristic of the subject's leukocytes and cultured skin fibroblasts. Residual α‐L‐iduronidase activity of cultured fibroblasts was found to have reduced catalytic activity (Vmax) against the 4‐methylumbelliferone substrate, but normal substrate affinity (KM). Additional studies further characterized the residual enzyme activity in this woman who is an apparent compound heterozygote for Hurler syndrome, and for an allele with low α‐L‐iduronidase activity lacking pathologic manifestation. Such low activity “pseudodeficiency” alleles will complicate attempts at prenatal diagnosis of Hurler syndrome and related disorders in rare families.
Close linkage of the Wieacker‐Wolff syndrome to the DNA segment DXYS1 in proximal Xq
Authors: Wieacker Peter , Wolff Gerhard , Wienker Thomas F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractLinkage studies with RFLPs were performed in a large family in which the Wieacker‐Wolff syndrome is segregating. In this new syndrome (McKusick, 1986, No.31458) patients have congenital contractures, progressive neuropathic muscle atrophy, involving also some cranial nerves with oculomotor apraxia and dyspraxia of the face and tongue muscles, and mental retardation. This is an X‐linked recessive syndrome. We found close linkage between the syndrome locus and the DNA segment DXYS1 (ẑ=3.225 at \documentclass{article}\pagestyle{empty}\begin{document}$ \mathord{\buildrel{\lower3pt\hbox{$\scriptscriptstyle\frown$}} \over \Theta } = 0.0 $\end{document} =0.0) in proximal Xq.
A patient with partial duplication 2q and partial deficiency 11q
Authors: Ho Chen‐Kung , Henderson Kenneth C. , Bowyer Frank P. , Eilers Kathryn B. , Andrews Lucy G. 
Published: June 2005

AbstractA patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low‐set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high‐arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der 11,t(2:11)(q32.2;q25)pat.
High degree of satellite association and decreased nucleolar organizer activity in cystic fibrosis subjects
Authors: Ravia Yehoshua , Lieberman Llana , Ravé Abraham , Kremer Moshe , Avivi Lydia , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe effect of colchicine at concentrations of 0.25 × 10−6 M, 1.0 × 10−6 M, and 2.0 × 10−6 M on the degree of satellite association (SA) was estimated in phytohemagglutinin‐stimulated lymphocytes of individuals in the following groups: cystic fibrosis (CF) children, obligatory CF heterozygotes, control children, and control adults. In all four groups increasing colchicine concentration caused a higher degree of SA. The degree of SA differed between the two control age groups (children vs adults) only at the lowest concentration. CF patients had a significantly higher degree of SA than CF heterozy gotes and than control individuals at all colchicine concentrations; CF heterozygotes had a significantly higher degree of SA than control adults at the low and intermediate concentrations. There was a strong interaction between genotype and colchicine concentration: the differences between the CF patients and the control individuals were most distinct at the intermediate concentratio n and between the carriers and the control individuals at the low colchicine concentration. Colchicine had no effect on the activity of the nucleolar Organizer regions (NORs), as measured by the frequency of the silver‐stained NORs (AgNORs), while the frequency of AgNORs in CF patients was significantly lower as compared to control individuals. Yet, the increase in the degree of SA caused by the CF mutant allele involved specifically the satellited chromosomes carrying active NORs.
Predicting recurrence risks under epistatic models
Authors: Beaty T. H. , Maestri N. E. , Meyers D. A. , Murphy E. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present the expected recurrence risks to a sib of an affected proband under 4 simple 2‐locus epistatic models for various allele frequencies at both the disease locus and the epistatic locus. Four obvious epistatic models are considered: an autosomal recessive disease with both 1) dominant and 2) recessive masking by the epistatic locus, and an autosomal dominant disease again with both 3) dominant and 4) recessive masking. Expected recurrence risks to a sib of an affected proband and to a sib of an affected proband with another normal sib are presented in the absence of information on parental status. Similar risks are presented for the case where both parents are known to be phenotypically normal. These recurrence risks were calculated using a convenient matrix notation which allows sequential calculation of genotypic probabilities. In general, 2‐locus epistatic models can give surprisingly low recurrence risks, and often these risks, especially for models of recessive diseases, fall into the range associated with a more general multifactorial model for liability.
Deletion (13) (q14.1q14.3) in two generations: Variability of ocular manifestations and definition of the phenotype
Authors: Wilson William G. , Campochiaro Peter A. , Conway Brian P. , Carter Bruce T. , Sudduth Kathy W. , Watson B. Allen , Sparkes Robert S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 5‐yr‐old girl with unilateral retinoblastoma was found to have del(l3)(q14.lql4.3). Her 16‐month‐old sister and 35‐year‐old mother, with retinal colobomata but without retinoblastoma, have the same deletion. Esterase D studies indicate reduced gene dose at this locus in the 3 females, consistent with a deletion of band 13ql4. These patients are of apparently normal intelligence but have a mildly “coarse” facial appearance, a broad nasal bridge, upturned nares, and a long upper lip with thin upper lip vermillion similar to the phenotype suggested by Motegi et al [1983a] for patients with this deletion. Review of the literature documents 2 other patients with deletions of band 13ql4 but without retinoblastoma, indicating that retinoblastoma is not a necessary consequence of this deletion. Of the 12 reported patients with deletions limited to band 13ql4, seven had normal intelligence and five were macrocephalic. Insufficient clinical information is provided to draw conclusions about phenotype. The family which we describe and those reviewed by Motegi et al suggest that there may be a characteristic appearance in patients with this deletion.
Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith‐Lemli‐Opitz syndrome
Authors: Bialer Martin G. , Penchaszadeh Victor B. , Kahn Ellen , Libes Richard , Krigsman Gary , Lesser Martin L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 46,XY newborn infant with Smith‐Lemli‐Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. Polydactyly, cleft palate, and several internal organ malformations were also present, and the patient died shortly after birth.Data on six reported male infants with SLO syndrome and female external genitalia suggest a correlation between degree of genital involvement and overall degree of severity. Scoring systems to quantify overall degree of severity (SLO score) and degree of genital involvement in males (genital score) were devised and applied to 122 reported cases from the literature. Statistical analyses showed a unimodal distribution of the SLO severity scores, and positive correlations between the SLO score and the genital score in males, the presence of polydactyly, and the presence of cleft palate. In 19 multiplex families the affected sibs were generally similar in their SLO scores.The above analyses suggest that the wide phenotypic variability in the SLO syndrome is determined by variable expressivity of the same entity as opposed to genetic heterogeneity. The observed phenotypic correlations naturally determine that males with complete feminization are among the more severe patients and tend to have polydactyly and cleft palate.
Deletions of proximal 15q without Prader‐Willi syndrome
Authors: Greenberg Frank , Ledbetter David H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFifteen patients with deletion of proximal 15q without typical Prader‐Willi syndrome (PWS) have been reported previously [Schwartz et al, 1985]. We report on 2 additional patients without typical PWS found to have deletions of 15qll‐13 on chromosome analysis done for evaluation of developmental delay. Their manifestations include broad nasal bridge with telecanthus, full nasal tip with flare of nasal alae, long upper lip, posteriorly angulated ears, highly arched palate, hypotonia, seizures and marked developmental delay. It was suggested that there may be a specific phenotype associated with this deletion which differs from PWS. Whether this deletion differs from the deletion associated with PWS awaits delineation on a molecular level.
Linear growth response to exogenous growth hormone in Prader‐Willi syndrome
Authors: Lee Phillip D. K. , Wilson Darrell M. , Rountree Lois , Hintz Raymond L. , Rosenfeld Ron G. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractLinear growth retardation and adult short stature are usual characteristics of Prader‐Willi syndrome. Several lines of evidence suggest that a deficiency in growth hormone (GH) secretion may contribute to this abnormal growth pattern. We have recently reported observations in 4 children with Prader‐Willi syndrome treated with GH. This report extends our observations in 2 of these cases. Both cases had abnormally low growth rate, normal stimulated GH levels, and low somatomedin‐C levels prior to therapy. GH treatment led to significant increases in linear growth rate and somatomedin‐C levels. An additive effect of oxandrolone therapy on linear growth rate was demonstrated in one case. Our resu1ts support the possibility of a neurosecretory GH deficiency in Prader‐Willi syndrome and suggest a need for further investigations.
Clinical comparison of 59 Prader‐Willi patients with and without the 15(Q12) deletion
Authors: Wenger Sharon L. , Hanchett Jeanne M. , Steele Mark W. , Maier Beate V. , Golden Wendy L. 
Published: June 2005

AbstractFifty‐nine patients with Prader‐Willi syndrome (PWS) (including three blacks) were enrolled in a behavior modification program including dietary restriction, nutritional education for self‐management of food intake, and exercise. Caloric intake for most patients was 700–800 calories per day. The average stay per patient was 5 weeks with a mean weight loss of 6.6 kg. Thirty‐one patients (53%) had apparently normal chromosomes compared to 25 patients (42%) with apparent 15(ql2) deletion. Three patients had other chromosome abnormalities including two with mosaicism for idic(15)(qll) and one with a de novo apparently balanced translocation t(8q;18q).There were no differences in manifestations or the effects of the behavior modification program between chromosomally normal and abnormal patients. However, the mean weight loss in the 59 PWS patients was less than would have been expected based on their calculated daily caloric requirements suggesting that PWS patients have reduced caloric needs per unit of body weight compared to normal individuals. Supporting this also was that weight maintenance could be accomplished with only 1000 calories per day on the average. In general, behavioral response to the modification program was successful in that tantrum responses, while not eliminated, were reduced in frequency and severity.
Choanal atresia and athelia: Methimazole teratogenicity or a new syndrome?
Authors: Greenberg Frank , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAn infant girl with choanal atresia, athelia, minor anomalies, and mild to moderate mental retardation was born to a woman treated for hyperthyroidism throughout pregnancy with methimazole and propranolol. The patient's defects may be due to methimazole teratogenicity or could represent a previously undescribed syndrome affecting ectodermal structures.
Pathological confirmation of cystic fibrosis in the fetus following prenatal diagnosis
Authors: Ornoy A. , Arnon J. , Katznelson D. , Granat M. , Caspi B. , Chemke J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPrenatal diagnosis of cystic fibrosis is presently based on the determination of microvillar enzyme activities in the amniotic fluid. However, there seems to be no accurate means for confirming the diagnosis of the aborted fetus. During the past year we performed pathological and histopathological examinations on 7 fetuses diagnosed in the second trimester of pregnancy to be affected by cystic fibrosis and compared them with 4 control age‐matched fetuses. Glycol‐methacrylate‐embedded 2–3‐μ thick sections of the pancreas, lungs, bronchial tree, and GI tract were stained with toluidine blue, H&E, PAS, and AB‐PAS, and examined microscopically. In the controls, PAS‐positive granules were dispersed throughout the cytoplasm of most pancreatic acinar and tracheal submucosal glandular cells. In the affected fetuses 2 distinct groups were identified. In one group of 4 fetuses, the pancreatic and tracheal submucosal glands were dilated and contained a weak PAS‐positive material. The glandular epithelial cells had very little PAS‐positive granules. In this group, the tracheal epithelium was either atrophic or metaplastic and devoid of microvilli. In the second group of 3 fetuses there was less dilation of the glands, and both pancreatic acinar cells and tracheal submucosal glandular epithelial cells contained few PAS‐positive granules, which were confined mainly to a perinuclear location. The tracheal epithelial cells contained few microvilli which, when present, appeared thicker and shorter as compared to controls. We feel that histochemical evaluation of pancreatic abd vribcguak tussye nat ve if geko ub tge oatgikigucak cibfurnatuib if cstuc fuvrisus ub gynab fetyses wgere tge results of the biochemical studies are suggestive of the disease.
Genetic counselling in unexpected familial recurrence of achondroplasia
Authors: Dodinval P. , Le Marec B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo additional pedigrees with familial recurrence of achondroplasia are described. Genetic risk for children of sibs of affected individuals or premutation carriers seems to be low, but it is advisable to monitor at risk pregnancies by midtrimester ultrasonogra‐phy to diagnose fetal achondroplasia.
X chromosome aneuploidy in lymphocyte cultures from women with recurrent spontaneous abortions
Authors: Horsman D. E. , Dill F. J. , McGillivray B. C. , Kalousek D. K. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOccasional metaphases with X chromosome aneuploidy can be detected in short‐term lymphocyte cultures from women with recurrent abortions. The significance of this finding is unknown. It has been suggested that it may reflect a genetic tendency to nondisjunction that predisposes these women to an increased risk of producing aneuploid offspring.We have investigated prospectively the frequency of X chromosome aneuploidy in lymphocyte cultures from 104 women with a normal chromosome constitution and a history of recurrent pregnancy loss defined as 2 or more spontaneous abortions. Seventeen women (16%) had a significant number (2–10%) of X aneuploid cells in cultured lymphocytes but no evidence of constitutional chromosome mosaicism, based on analysis of fibroblast cultures. A control group of age‐matched fertile women without a history of recurrent abortions showed a similar level of X chromosome aneuploidy in lymphocyte cultures. No increased risk for production of liveborn children with aneuploidy was found on retrospective analysis of the reproductive histories of these women. A significant effect of culture conditions on X chromosome gain or loss has been demonstrated by comparison of medium 199 with Dulbecco's modified Eagle medium.
An integrated microcomputer system to maintain a genetic register for Huntington disease
Authors: Sarfarazi Mansoor , Quarrell Oliver W. J. , Wolak Geoffrey , Harper Peter S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA microcomputer program has been designed to maintain a large data base for Huntington disease. This program facilitates such data manipulation as adding, altering, retrieving, deleting, and printing pedigrees. The program is self‐contained and has a risk‐calculating routine built in which automatically provides both the Mendelian and age‐modified risks. This package is capable of printing the pedigrees on a simple printer or, alternatively, creates an output‐file which can be used with a dedicated plotting program for drawing the pedigrees and their data on a plotter. The program has a routine which can provide a series of statistical data from the register including age‐of‐onset, diagnosis, death, and other useful information.