bluuebunny/crossref_metadata_2025_split huggingface dataset:
X‐linked dominant chondrodysplasia punctata: A case report and family studies
Authors: Mueller R. F. , Crowle P. M. , Jones R. A. K. , Davison B. C. C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited, rhizomelic form and the less severe, dominantly inherited Conradi‐Hünerman form. Clinico‐genetic analysis of this latter form of CP uncovered a sub‐group characterised by asymmetric involvement with linear or whorled skin patches of ichthyosiform erythroderma or atrophoderma, circumscribed cicatricial alopecia, asymmetrical cataracts and limb shortness. The mosaic pattern of the manifestations and the limitation of reported cases to females suggested an X‐linked dominant gene which undergoes Lyonisation in the female and is lethal in the hemizygous male. We report on a family ascertained through a baby girl who had manifestations typical of the X‐linked dominant form of CP and whose mother, 2 of 3 maternal aunts, and maternal grandmother all had less severe manifestations. The absence of male offspring for 3 generations and a history of 3 early miscarriages, along with the clinical variability in the affected females, provide further support for X‐linked dominant inheritance of this disorder.
Brief cytogenetic report on maternal translocation t(7;9)(p22:p23): Two sibs with duplication 9p and one sib with the balanced translocation
Authors: Wajntal Anita , Gonzalez Claudette H. , Koiffmann Célia P. , de Souza Deise H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a family in which a maternal translocation (7;9) (7qter → 7p22::9p13 → 9pter; 9qter → 9p13) resulted in 2 sibs with dup(9p) syndrome, one sib with the same balanced constitution as the mother, and one normal boy.
Segregation and linkage analysis of α‐N‐acetyl‐D‐glucosaminidase (NAG) levels in a black family
Authors: Pericak‐Vance M. A. , Vance J. M. , Elston R. C. , Namboodiri K. K. , Fogle T. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

Abstractα‐N‐acetyl‐D‐glucosaminidase (NAG) activities were evaluated on serum samples from 67 persons in a large black family. These data were analyzed in conjunction with those from 126 previously tested unrelated blacks [Vance et al, 1980]. After loge tranformation, admixture analysis indicated a significantly better fit (P < .01) of a mixture of 2 normal distributions for NAG activity versus a single normal distribution. Segregation analysis using the transmission probability model of Elston and Stewart [1971] demonstrated that a genetic model fits the data better than the random “environmental” model. Thus, the existence of a major gene is suggested in the family, although the possibility of polygenic or other familial effects cannot be ruled out. These results confirm the existence of a polymorphism for NAG reported earlier in a series of White half‐sib twin families [Vance et al, 1980]. However, the estimates of the means of the three genotypes (AA, AA′, A′A′) appear to differ in the two racial groups. Thus, the data suggest either a racial polygenic effect and/or different alleles segregating in the two populations. In fact, thermal stability data [Vance et al, 1981a] suggest that at least two alleles are structurally distinct. Linkage analysis of the pedigree with 20 marker loci gave no clear indication of linkage. A lod score of 1.44 was found at 0 recombination with orosomucoid (ORM).
X‐linked motor‐sensory neuropathy type‐II with deafness and mental retardation: A new disorder
Authors: Cowchock F. Susan , Duckett Serge W. , Streletz Leopold J. , Graziani Leonard J. , Jackson Laird G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a family with an apparently X‐linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensory neuropathy type II (HMSN‐II), one form of Charcot‐Marie‐Tooth disease. The manner of inheritance, the observation that males are severely affected from infancy, and the frequent association of deafness and/or mental retardation with the neuromuscular disorder are not usual for HMSN‐II and suggest that this family may have a previously undescribed genetic disorder. The peripheral neuropathy did not appear to be linked to the Xg blood group. Minor abnormalities of sensory nerve conduction, electromyography, and hearing were separately identified in female relatives in this family, but were not consistent enough to be useful in the identification of carriers for this gene.
A lethal autosomal recessive syndrome of multiple congenital contractures
Authors: Herva Riitta , Leisti Jaakko , Kirkinen Pertti , Seppänen Ulpu , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent the same clinical entity, probably caused by homozygosity of an autosomal recessive gene. The syndrome resembles the Pena‐Shokeir I syndrome, but seems to differ in some respects, including length of survival and presence of hydrops. Prenatal diagnosis of this syndrome is possible after the 16th week of pregnancy with ultrasound.
Genetic amniocentesis: A twelve years' experience
Authors: Dacus John V. , Wilroy Robert S. , Summitt Robert L. , Garbaciak John A. , Abdella Thomas N. , Spinnato Joseph A. , Luthardt Frederick W. , Flinn George S. , Lewis Beverly A. , Mahoney Maurice J. 
Published: June 2005

AbstractThe first 2,013 fetuses in 2,000 patients undergoing genetic amniocentesis at our institution were analyzed for the incidence of abnormal findings and for the safety and accuracy of the procedure. One percent of the patients were found to have aneuploid fetuses and another 1% were found to have elevated amniotic fluid concentrations of alpha‐fetoprotein. Advanced maternal age was the indication for amniocentesis in 84% of the women with aneuploid fetuses. Thirty‐two (1.6%) of the pregnancies ended in spontaneous abortion and 35 (1.7%) were terminated because of abnormal results of the prenatal diagnostic procedure. Our error rate was 0.15%, and tissue culture was successful in 97.7% of the procedures. During the latter part of our experience concurrent ultrasonography was utilized with the amniocentesis, resulting in a reduction in blood‐tinged specimens from 15.0% to 5.2%. In experienced hands, midtrimester amniocentesis for the purpose of prenatal diagnosis of genetically determined defects is a safe, accurate, and valuable procedure for the identification of fetal abnormalities.
Carpenter Syndrome: Natural history and clinical spectrum
Authors: Robinson Luther K. , James Hector E. , Mubarak Scott J. , Allen Elizabeth J. , Jones Kenneth L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractRecently, we evaluated three sibs with Carpenter syndrome, permitting further clinical, orthopedic, radiographic, and psychometric delineation of this disorder. All three patients were operated on for craniostenosis at or before 2 months. Although all had gross motor delay in early infancy, two had normal intelligence at 12 months and 10 years, respectively. Bony abnormalities contributed to functional impairment especially in the older children. Preaxial polydactyly of feet was present in all three affected sibs and in all other reported individuals with this condition, allowing differentiation of Carpenter syndrome from the other autosomal‐recessive acrocephalopolysyndactyly syndromes.
An anatomical study of a duplication 6p based on two sibs
Authors: Smith Barbara S. , Pettersen James C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDup (6p) patients have a peculiar facial appearance (frontal bossing, hypotelorism, hypoplastic midface), low birthweight, cardiovascular defects, small kidneys, and psychomotor retardation. We thought that a detailed anatomical dissection would more precisely define the syndrome, which has been developed from clinical evaluations and autopsy reports. Our patient, a female adolescent, died at 17 11/12 years and is the oldest patient with this syndrome to be described.The brain and skull showed the greatest number of abnormalities. The brain was smaller than normal and abnormally shaped. Many of the skull abnormalities, including shortened basisphenoid/basiocciput, reduced size of cranial fossae, and steep orbital roofs, may be attributed to the brain's shape. There were no olfactory bulbs, and only one rudimentary olfactory tract was present.Other findings were the following: a high interventricular septal defect and right ventricular hypertrophy, absence of uterus and vagina, hypoplastic ovaries, a common mesentery, two left extensor indicis bellies, bilateral absence of palmaris brevis and of peroneus tertius.Our results are compared with anomalies found in other aneuploidy syndromes. Variations in some organ systems may be similar to those whose presence Shapiro [(1983):] has attributed to amplified developmental instability. Relationships between the brain shape and size and skull abnormalities are also discussed.From 16 reported cases, a detailed autopsy report of the affected brother, and our anatomical findings, we suggest that this syndrome may also be characterized by arhinencephaly, common mesentery, absent uterus in the female, and growth retardation in those surviving the neonatal period.
The frequency and economic burden of genetic disease in a pediatric hospital in Mexico city
Authors: Carnevale Alessandra , Hernández Maricela , Reyes Raquel , Paz Fernando , Sosa Cristina , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: 1) single gene disorders; 2) chromosomal disorders; 3) complex genetic etiology; 4) unknown etiology, and 5) nongenetic disorders.Of all admissions studied, 4.3% had a genetic disease (categories 1 and 2); 33.5% had a partly genetic condition (category 3); 13.8% had a disorder of unknown etiology; and 48.4% had an environmental disease.In terms of economic burden, patients with genetic or partly genetic disorders came more frequently from outside the city and had more and longer admissions with a higher number of surgeries. The results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families.The need to create genetic units in developing countries is emphasized.
Partial deletion of distal 17q
Authors: Bridge Julie , Sanger Warren , Mosher Gayle , Buehler Bruce , Nelson Robert , Welsh Melonie , Newland James , Kafka Michael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.
Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?
Authors: Toriello Helga V. , Bauserman Steven C. , Higgins James V. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPena and Shokeir [J Pediatr 85:373–375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena‐Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena‐Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.
Prenatal diagnosis and management of congenital heart defect: Significance of associated fetal anomalies and prenatal chromosome studies
Authors: Wladimiroff J. W. , Stewart P. A. , Sachs E. S. , Niermeijer M. F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA fetal cardiac defect was found prenatally by ultrasound in 13 of 230 women (5.6%) with a suspected fetal anomaly. Pregnancy duration varied between 17 and 39 weeks (mean 28 weeks). The reasons for referral of the 13 patients were: suspected fetal structural defect (n = 4), oligo‐ or polyhydramnios (n = 2), severe fetal growth retardation (n = 1), fetal cardiac arrhythmia (n = 1), or a combination thereof (n = 5). Abnormal chromosomes were found in 5 out of 13 fetuses (38%)—ie, four through prenatal and one through postnatal analysis.The present study demonstrates that fetal cardiac structural anomalies often are diagnosed in combination with ultrasonically established associated abnormality. Cytogenetic analysis of amniotic cells greatly improves diagnosis and obstetric management, especially when the cardiac defect per se is considered amenable to surgical treatment and other major structural defects have been ruled out.
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome
Authors: Miny Peter , Lenz Widukind , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.
Erythrocyte catechol‐O‐methyltransferase activity: Genetic analysis in nuclear families with one child affected by down syndrome
Authors: Brahe C. , Serra A. , Morton N. E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractErythrocyte catechol‐O‐methyltransferase (COMT) activity was measured in 142 members of 32 nuclear families in which one child had Down syndrome (DS). The mean activity in subjects with trisomy 21 appears higher than in parents and sibs, though not significantly so. However, this fact does not seem to modify the properties expected for a trait genetically controlled in a diploid population. The commingling analysis of the COMT activity in the whole group, and in each subgroup of relatives, suggests a mixture of two or, more likely, three components, the latter being in agreement with a transmission model of genes without dominance. The most parsimonious hypothesis supported by the mixed model segregation analysis is that of an additive major locus (d = 0.5) with an estimated frequency of 0.40 ± 0.03 for the COMTH gene, to which a small polygenic effect (H = 0.067) can be added. This hypothesis is supported further by the analysis of family resemblance, r = 0.45 ± 0.12 being the maximum likelihood estimator of the intraclass correlation among sibs. The higher COMT activity in DS subjects may reflect a situation of general enzyme disorder only indirectly connected with trisomy of chromosome 21.
The dynamics of quantifiable homeostasis. Vi: Processes of fractional order
Authors: Murphy Edmond A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn a previous paper [Murphy and Renie, 1984] we noted that in a system that exhibits homeostasis of zero order, an instantaneous perturbation, however small, invariably leads to a permanent, stable oscillation, the amplitude of which depends on the restoration constant (b) and the lag time (L) but not on the magnitude or sign of the original perturbation. We suggested that such a remarkable property, so easily attained, would be a valuable and plausible evolutionary device for generating those cyclical processes so important in normal physiology — such as respiration, heart contraction, the sleep cycle, seasonal effects, and menstruation. By a suitable choice of parameters, they could be readily tuned to the requisite length of the cycle and amplitude of variation. The most immediate argument against this suggestion is the implausible form of the wave generated in the zero‐order process, which is angular and quite unlike anything in common experience of normal physiology.Then in a subsequent study [Renie and Murphy, 1984] we found that for homeostatic processes of higher order, in general there is a critical value of the restoration constant at which regular oscillation is maintained. A preliminary study suggested that for processes of fractional order, no critical value that produces oscillation exists. However, the topic of processes of fractional order seems to be of sufficient complexity to warrant detailed treatment in a separate paper.
Prenatal diagnosis of Jeune syndrome
Authors: Elejalde B. Rafael , De Elejalde Maria Mercedes , Pansch Donald , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X‐ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.
Differential diagnosis in young women with oligomenorrhea and the pseudopseudohypoparathyroidism variant of Albright's hereditary osteodystrophy
Authors: Halal Fahed , Van Dop Cornelis , Lord Julien , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOligomenorrhea was the reason for consultation in three individuals (two sisters and one unrelated woman) with the pseudo‐pseudohypoparathyroidism (PPHP) variant of Albright's hereditary osteodystrophy (AHO). All had short stature, Ullrich‐Turner‐like signs, acral anomalies typical of AHO/brachydactyly E, and hypogonadism. One of the three individuals also had reduced erythrocyte Ns (a membrane nucleotide regulatory protein that is required for functional coupling of stimulatory hormone receptors and catalytic adenylate cyclase) activity as described in the pseudohypoparathyroidism variant of AHO. The differential diagnosis of young women with the PPHP phenotype is discussed with special reference to Ullrich‐Turner syndrome, brachydactyly E, the “resistant ovary” syndrome, and acrodysostosis.
Phenotype‐karyotype correlations in dup(18q): Report of a case and review
Authors: Razavi‐Encha Férechté , Raoul Odile , Lescs Marie‐Claude , Danan Claude , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a case of dup(18q) due to de novo translocation 46,XX,‐21,t(18;21)(18qter→cen→21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype‐karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of “critical zone(s)” at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.
A new X‐linked mental retardation syndrome
Authors: Atkin Joan F. , Flaitz Katherine , Patil Shivanand , Smith Wilbur , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied a three‐generation family with 11 moderately to severely retarded males and three mildly retarded females (presumably manifesting carriers). The patients have a phenotype different from that of all other previously described types of X‐linked MR (XLMR). These include short stature, macrocephaly, “coarse” facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume >25 ml). Chromosomes were normal including fragile X analysis. X‐ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X‐linked MR, the Coffin‐Lowry syndrome, and other XLMR conditions.
Osteoporosis‐pseudoglioma syndrome: Report of three affected sibs and an overview
Authors: Frontali Marina , Stomeo Chiara , Dallapiccola Bruno , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a sibship with one brother and two MZ twin sisters affected with osteoporosis‐pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X‐ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.
Dominant inheritance of syn‐camptodactyly of the second and third toes with foot and lower limb asymmetry and scoliosis
Authors: Halal Fahed , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a family in whom affected persons have the following anomalies in variable combination: camptodactyly of the second and/or third toes, partial syndactyly of second and third toes, foot and lower limb asymmetry, and scoliosis. The condition seems to be an autosomal dominant trait with apparently reduced penetrance and variable expressivity.
Mandibulofacial dysostosis in hutterite sibs: A possible recessive trait
Authors: Lowry R. B. , Morgan K. , Holmes T. M. , Metcalf P. J. , Stauffer G. F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sisters with mandibulofacial dysostosis (MFD). Both parents were examined carefully by clinical, radiographic, audiologic, and cephalometric methods. Neither showed evidence of the MFD gene. Photographs of three grandparents and examination of one disclosed no evidence of MFD. The parents are from the Hutterite Brethren and are consanguineous. Examination of the literature on MFD disclosed a number of other families with affected sibs and apparently normal parents. These families raise the possibility of an autosomal recessive form of MFD or some other explanation such as germinal mosaicism, chromosome rearrangement, or delayed mutation. For our family, the recurrence risk is probably 25%, but since germinal mosaicism cannot be excluded, it could be as high as 50%.