bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sibs with growth deficiency, delayed bone age, congenital hip dislocation, and iridocorneal abnormalities with glaucoma
Authors: Stratton Robert F. , Parker Mark W. , McKeown Craig A. , Johnson Chris P. 
Published: June 2005

AbstractWe report on a brother and sister with short stature, delayed bone age, developmental delay, congenital hip dislocation, and iridocorneal abnormalities with onset of glaucoma at or soon after birth. Results of endocrine evaluation were normal. To our knowledge, no similar pattern of defects has been reported previously.
Survey of neural tube defects in spontaneously aborted embryos
Authors: McFadden Deborah E. , Kalousek Dagmar K. 
Published: June 2005

AbstractAlthough variations in the incidence and types of central nervous system abnormalities have been demonstrated between early and late pregnancy, the reason for this finding has not yet been determined.Among 569 spontaneously aborted embryos, we describe 38 central nervous system lesions, many of which are different from those observed at birth. The importance of correlating morphology and cytogenetic studies in the understanding of pathogenesis of embryonic neural tube defects is emphasized.
Autosomal dominant supravalvular aortic stenosis: Large three‐generation family
Authors: Schmidt Michael A. , Ensing Gregory J. , Michels Virginia V. , Carter Guy A. , Hagler Donald J. , Feldt Robert H. 
Published: June 2005

AbstractSupravalvular aortic stenosis (SVAS) can be inherited as an isolated autosomal dominant trait or can be a component manifestation of the Williams syndrome. Some consider the Williams syndrome to be due to more severe expression of the gene defect that causes isolated SVAS. We describe a family with isolated SVAS that is the largest thoroughly studied family with this disorder to our knowledge; no patients in this family had Williams syndrome. Five members of this family were reported by Lewis et al. (Dis Chest 55:372–379, 1969). We reevaluated this family and now include examinations of the parents, additional sibs and children of the original 5 patients. Twenty relatives had physical and echocardiographic examinations. In addition, information from outside sources was obtained on 7 relatives not personally evaluated. The SVAS showed marked variability of expression and was not associated with mental retardation or with the facial manifestations of Williams syndrome. We think that previous reports of Williams syndrome reputedly occurring within the same family as isolated autosomal dominant SVAS were inadequately documented. Based on our family and review of the literature, we suggest that isolated SVAS and Williams syndrome represent clinically distinct entities.
Prenatal detection of Roberts‐SC phocomelia syndrome: Report of 2 sibs with characteristic manifestations
Authors: Robins David B. , Ladda Roger L. , Thieme Gary A. , Boal Danielle K. , Emanuel Beverly S. , Zackai Elaine H. 
Published: June 2005

AbstractWe describe 2 sibs with Roberts‐SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts‐SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.
Lethal form of fibuloulnar A/hypoplasia with renal abnormalities
Authors: Saito Nakamichi , Kuba Akihiro , Tsuruta Toyoshi 
Published: June 2005

AbstractThe present report describes two sibs with lethal acrorenal developmental complex who were products of a nonconsanguinous marriage. Clinical and roentgenologic characteristics did not match any of the known types of fibuloulnar dysostosis. Distinct abnormalities included lethality at birth, facial anomalies, ear anomalies, symmetrical mesomelic shortness of long bones, fibular agenesis, normal vertebrae, oligosyndactyly of phalanges, congenital heart defect, and cystic or hypoplastic kidney. These cases suggest a new lethal form of recessively inherited fibuloulnar dysostosis with renal anomalies.
Hypertrichosis cubiti
Authors: Flannery David B. , Fink Stacey M. , Francis Gary , Gilman Priscilla Ann 
Published: June 2005

AbstractHypertrichosis is an unusual but well‐recognized genetic condition. Hypertrichosis may be generalized or limited to specific body areas, in which case it is usually not associated with other anomalies. Five previous cases of hypertrichosis cubiti have been reported, with short stature in 2 sibs being the only other associated abnormalities. We report on a child with hairy elbows, developmental delay, facial asymmetry, and delayed speech with normal parents. Our patient may represent severe expression of the hairy elbow syndrome or constitute apreviously unrecognized syndrome.
Cataracts, alopecia, and sclerodactyly: A Previously apparently undescribed ectodermal dysplasia syndrome on the Island of Rodrigues
Authors: Wallis Colin , Ip François Saw Lan , Beighton Peter 
Published: June 2005

AbstractAn unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.
Analysis of chromosome breakage in the Prader‐Labhart‐Willi syndrome
Authors: Butler Merlin G. Md, PhD , Jenkins Bonnie B. 
Published: June 2005

AbstractAnalysis of chromosome breakage with mitomycin C (MMC) and folate‐deficient culture conditions was undertaken on 18 Prader‐Labhart‐Willi syndrome (PLWS) patients (10 with 15q12 deletion [5 females, 5 males; x̄ age = 17.9 yr, range of 0.3 to 40 yr] and 8 without deletion [2 females, 6 males; x̄ age = 18.6 yr, range of 7 to 26 yr]), 21 PLWS parents with an average age of 39.2 yr and a range of 25 to 70 yr (12 fathers [8 fathers of PLWS children with the 15q12 deletion and 4 fathers of PLWS children with normal chromosomes] and 9 mothers [4 mothers of PLWS children with the 15q12 deletion and 5 mothers of PLWS children with normal chromosomes]), and age‐matched control individuals. There was no difference between PLWS patients and control individuals in the number of chromosome and chromatid aberrations in cells grown at 48 and/or 96 hr in either 20 ng/ml or 50 ng/ml of MMC or between the PLWS parents and control individuals in cells grown in 50 ng/ml MMC for 96 hr, although a small increase (P < 0.05) in chromosome breakage was found in cells from the total PLWS parental group compared with control individuals exposed for 48 hr in 50 ng/ml MMC. There was also no significant difference in chromosome fragile site frequency in cells grown in folate‐deficient culture conditions in PLWS patients, their parents, or controls. The average sister chromatid exchange (SCE) frequencies observed in PLWS subgroups (deletion vs. nondeletion), their parents or control individuals were not significantly different. No clustering of chromosome/chromatid breaks or SCEs identified in the proximal long arm was found when compared with the middle or distal long arm regions of the D group chromosomes.
Growth of the foramen magnum in achondroplasia
Authors: Hecht Jacqueline T. , Horton William A. , Reid Cheryl S. , Pyeritz Reed E. , Chakraborty Ranajit 
Published: June 2005

AbstractForamen magnum growth curves in achondroplasia and in the general population are presented. The achondroplastic foramen magnum is small at birth, and during the first year it has a severely impaired rate of growth especially in the transverse dimension. This markedly diminished growth results not only from abnormal endochondral bone growth but also because of abnormal placement and premature fusion of the synchondroses. Evaluation of the foramen magnum in achondroplasia should address absolute size of the transverse and sagittal dimensions, shape, and growth centers to determine growth potential of this area.
Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry
Authors: Cooke A. , Tolmie J. L. , Glencross F. J. , Boyd E. , Clarke M. M. , Day R. , Stephenson J. B. P. , Connor J. M. 
Published: June 2005

AbstractA proximal 15q deletion, del(15) (q11:q13), was detected in a child with Angelman syndrome by cytogenetic analysis of peripheral lymphocytes. The chromosomes of both parents appeared normal. Flow karyotype analysis carried out on lymphoblastoid cell lines derived from the child and her parents confirmed the presence of a de novo 15 deletion. The estimated size of the deleted segment ranged from 6.1–9.5% of chromosome 15 (approximately 6–9.3 million base pairs). The parental origin of the deleted chromosome could not be resolved by flow cytometry, but cytogenetic evidence suggested that it was derived from the smaller chromosome 15 homologue in the mother.
Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories
Authors: Daniel Art , Hook Ernest B. , Wulf Gary 
Published: June 2005

AbstractData on 1,237 prenatal (amniocyte) diagnoses in cases of familial chromosome rearrangements were collated from 79 American and Canadian laboratories. These were added to European data (Daniel et al: Prenatal Diagn 6:315–350, 1986) on 596 reciprocal translocations (rcp) from 71 collaborative laboratories. The total data set was examined for relationships between balanced or unbalanced result and mode of ascertainment, sex of carrier parent, chromosomes involved, and (in cases of reciprocal translocations and pericentric inversions) for potential or actual chromosome imbalance size (% haploid autosome length). Risk rates for unbalanced segregants were markedly dissimilar. These ranged from approximately 50% down to essentially a negligible risk. The risk was approximately 50% for carriers of the following: complex chromosome rearrangements (ccr); insertions (ins); and for 2:2 segregating rcp ascertained by mode 1 (term unbalanced proband) with small imbalance segments. Pooled carriers (either sex) of 2:2 segregating rcp of mode 1 had a risk of 20–25% whereas female Robertsonian (rob) translocation (D;21) carriers and pericentric inversion (pii) carriers of pii with small distal segments had a risk of 10–15%. Pooled 2:2 segregating rcp carriers ascertained by mode 2 (a couple with recurrent miscarriages) and male carriers of rob (D;21) had a risk of 1.5–5%. The risk of unbalanced segregants was 1–2% (in this data) for male and female rob (13; 14) carriers and for pooled pericentric inversion carriers. However, for carriers of most “type” (recurrent breakpoints) pii, for all paracentric inversions, and (as expected) for rob not involving 13 or 21, there were no term unbalanced progeny. For 2:2 segregating reciprocal translocations plots were prepared that could be used to determine broad risk groups for carriers of such rcp. In 3:1 segregating rcp there were 3.3 times fewer male than female carriers, whereas there were 1.3 times fewer male carriers in 2:2 segregating rcp. In 2:2 segregating rcp there is little effect on the fertility of male carriers and risks of unbalanced progeny were found to be equal to those for female carriers, whereas in the 3:1 segregating rcp, risks were much less for male as compared to female carriers. This indicates that 3:1 segregating rcp are more similar to Robertsonian translocations in their greater effect on the fertility of male carriers.
Comments on estimations of risks to translocation carriers
Authors: Stene Jon 
Published: June 2005

AbstractTwo projects for estimation of risks to carriers of reciprocal translocations based on data from more than 1,100 families are compared. The 2 projects differ considerably with regard to the amount of information utilized in the data, the statistical methods used—either standard computer programs or methods specially developed for the data—and the relevance and variety of the obtained results. The comparison shows the strength of utilizing tailor‐made statistical methods for extracting relevant information from available data in human genetics instead of statistical standard methods from general computer programs.
Multivariate analysis of body shape in fragile X (Martin‐Bell) syndrome
Authors: Loesch Danuta Z. , Wilson Susan R. 
Published: June 2005

AbstractHuman body shape measures can be more informative in studies of developmental abnormalities than distances between body landmarks. Such measures were obtained by an appropriate transformation of 34 distances between trunk/limbs and head/face landmarks in 43 men and 72 women with the Martin‐Bell Syndrome (MBS), and in 99 and 103 normal men and women, respectively. The transformation of the original distances was performed by adjusting individual measures for an overall size measure using regression analysis.Thus obtained body shape variables were used in discriminant analysis in order to obtain unbiased classification probabilities of individuals having the MBS or being normal. The average percent correctly classified male and female individuals was high (93 and 87, respectively). Moreover, the body shape variables were used to obtain shape dimensions by means of principal component analysis. There was no difference between the MBS and normal individuals in the first (most important) principal component (shape dimension). This component represents the relative proportions between trunk and limb lengths and widths, or between midfacial lengths and widths. However, there were appreciable differences in some succeeding components.The problem of interpretation of shape dimensions as derived from principal component analysis and of their relevance to abnormal development in the MBS individuals is discussed.
Familial distal arthrogryposis with craniofacial abnormalities: A new subtype of type II?
Authors: Moore Cynthia A. , Weaver David D. 
Published: June 2005

AbstractWe report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.
Autosomal recessive form of connatal Pelizaeus‐Merzbacher disease
Authors: Begleiter Michael L. , Harris David J. 
Published: June 2005

AbstractWe report on a brother and sister with the connatal form of Pelizaeus‐Merzbacher disease. This rare degenerative disease of white matter is reported to be transmitted as an X‐linked recessive with an occasional affected female. Some authors have suggested that an autosomal recessive form exists. When this family is analyzed with other families in the literature, both X‐linked and autosomal recessive inheritance must be considered.
Apparent Ruvalcaba syndrome with genitourinary abnormalities
Authors: Bialer Martin G. , Wilson William G. , Kelly Thaddeus E. 
Published: June 2005

AbstractThe Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22‐year‐old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome.
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa
Authors: Lowry R. Brian , Wood Betty J. , Cox Terry A. , Hayden Michael R. 
Published: June 2005

AbstractIn 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.
Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher‐Neuhäuser syndrome
Authors: Limber Ellen R. , Bresnick George H. , Lebovitz Ruth M. , Appen Richard E. , Gilbert‐Barness Enid F. , Pauli Richard M. 
Published: June 2005

AbstractWe describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These three examples confirm the existence of this triad as a specific, pleiotropic, single‐gene syndrome. Careful ophthalmologic evaluation of patients with ataxia and hypogonadotropic hypogonadism may identify additional cases.
Chromosome deletion of Xq25 in an individual with X‐linked lymphoproliferative disease
Authors: Wyandt H. E. , Grierson H. L. , Sanger W. G. , Skare J. C. , Milunsky A. , Purtilo D. T. 
Published: June 2005

AbstractHigh resolution chromosome analysis was done on lymphoblastoid cell lines, established during the past decade from affected males with X‐linked lymphoproliferative disease (XLP) or from obligate female carriers, from 14 families. One cell line, from a male with XLP, has a partial deletion of band Xq25. The constitutional nature of the deletion is confirmed in chromosome studies of peripheral blood from the affected individual and represents the first such structural defect to be described in this disorder. Cell lines from the remaining 13 families do not have cytogenetically detectable deletions. This observation will facilitate precise localization, cloning and sequencing of the gene causing XLP.
Postaxial acrofacial dysostosis: Report of a Brazilian patient
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. 
Published: June 2005

AbstractWe report on a Brazilian child with postaxial acrofacial dysostosis (AFD)‐type Genée‐Wiedemann. Clinical and genetic aspects of the postaxial acrofacial dysostoses are discussed.
Pectoralis major defect and Poland sequence in second cousins: Extension of the Poland sequence spectrum
Authors: Fraser F. C. , Ronen G. M. , O'Leary E. 
Published: June 2005

AbstractWe report on a patient with congenital absence of the left pectoralis major muscle, whose second cousin had the full Poland sequence. This suggests that isolated pectoralis major muscles defect should be included in the spectrum of anomalies characterized as the Poland sequence, postulated to result from disruption of blood supply in the embryonic subclavian and vertebral arteries, the site and degree of obstruction determining the sites and severity of the resulting anomalies. Very few cases are familial; in these the family pattern is compatible with an autosomal dominant mutant gene with reduced penetrance or delayed mutation.
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister‐Hall syndrome)
Authors: Iafolla Kimberly , Fratkin Jonathan D. , Spiegel Peter K. , Cohen M. Michael , Graham John M. 
Published: June 2005

AbstractWe report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister‐Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of Pallister‐Hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with Pallister‐Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low‐set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.
Growth and development in thanatophoric dysplasia
Authors: MacDonald Ian M. , Hunter Alasdair G. W. , MacLeod Patrick M. , MacMurray S. Brock 
Published: June 2005

AbstractTwo cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa. The history of each patient has been characterized by profound developmental delay and dramatic growth failure.
Longitudinal IQ changes in fragile X males
Authors: Hagerman Randi J. , Schreiner Rebecca A. , Kemper Melinda B. , Wittenberger Michael D. , Zahn Betsy , Habicht Kristin 
Published: June 2005

AbstractPrevious studies have reported a drop of IQ in males with Martin‐Bell or fragile X syndrome during childhood and adolescence. It is uncertain when and why this drop occurs and whether it affects all fragile X males. We have analyzed longitudinal IQ data on all 24 fragile X males who have been followed for at least 2 years through the Child Development Unit in Denver and who have been evaluated with a Stanford‐Binet Form L‐M assessment. A significant drop in IQ occurred for the group as a whole, but an individual z analysis demonstrated that only 7 of 24 had a significant decline in IQ. Visual inspection demonstrates an initial decline in IQ beginning in middle childhood and continuing through adolescence. We postulate that this drop occurs because of relatively greater weaknesses with abstract reasoning and higher symbolic language skills that are stressed in the cognitive testing of later childhood and adolescence.