bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial occurrence of a developmental defect of the medial nasal processes
Authors: Toriello Helga V. , Higgins James V. , Walen Annette , Waterman Donald F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a family in which the propositus and two distant relatives have a wide nose, broad philtrum, and short columella, a fusion defect of the medial nasal processes. This anomaly resembles potato nose [Benjamins and Stibbe, Acta Otolaryngol 11:274–284, 1927] and bifid nose [Anyane‐Yeboa et al, Am J Med Genet 17:561–563, 1984], which are also fusion anomalies of the medial nasal processes. Potato nose is an autosomal dominant trait, whereas bifid nose is likely heterogeneous. In this family autosomal recessive inheritance is likely, therefore suggesting that anomalies of the medial nasal processes are causally heterogeneous and represent a developmental field defect.
X‐linked syndrome of branchial arch and other defects
Authors: Toriello Helga V. , Higgins James V. , Abrahamson Jon , Waterman Donald F. , Moore W. David , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two brothers and their maternal first cousin who have branchial arch defects and other anomalies. Similar physical findings in all three include microcephaly, downslanting palpebral fissures, highly arched palate, apparently lowset, protruding ears, bilateral hearing loss, slightly webbed neck, and mild short stature. In addition, two boys had cryptorchidism, and one had subvalvar pulmonic stenosis and body asymmetry. We suggest that these cousins have an X‐linked syndrome of which branchial arch defects are a component. Other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well.
Bilateral renal agenesis in twins
Authors: Wilson R. Douglas , Hayden Michael R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present the second report of like‐sex twins concordantly affected with bilateral renal agenesis (BRA). Mode of inheritance is proposed to be autosomal dominant. Screening of first‐degree relatives of the BRA proband by ultrasound of the GU system is recommended. Prenatal diagnosis with second‐trimester ultrasound screening is recommended when a previous fetus has been affected by bilateral renal agenesis.
Renal agenesis in British Columbia
Authors: Wilson R. D. , Baird P. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe review the incidence of bilateral and unilateral renal agenesis occurring in more than 625,000 consecutive births in British Columbia from 1952 to 1982. In total, 92 cases of bilateral renal agenesis and 117 cases of unilateral renal agenesis were identified. Congenital anomalies occurring in association with these conditions were also analyzed. The findings of the study support a mechanism in at least a proportion of cases of a primary developmental defect involving multiple systems within the fetus, with oligohydramnios being the result of the syndrome not the cause. Oligohydramnios no doubt contributes to the anomalies of the face, musculoskeletal system, and genitalia. No trends in changing incidence over time were identified.
The Gardner‐Silengo‐Wachtel or genito‐palato‐cardiac syndrome: Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect
Authors: Greenberg Frank , Gresik Mary V. , Carpenter Robert J. , Law Samuel W. , Hoffman Lynn P. , Ledbetter David H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low‐set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular seplal defect, a right‐sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X‐linked recessive and may overlap with the Smith‐Lemli‐Opitz syndrome.
Progressive form of multiple pterygium syndrome in association with nemalin‐myopathy: Report of a female followed for twelve years
Authors: Papadia Francesco , Longo Nicola , Serlenga Luigi , Porzio Gemma , Reynolds James F. 
Published: June 2005

AbstractWe report on a girl with progressive multiple pterygium syndrome in association with gluteal muscle fibrosis and nemalin‐myopathy. This girl has been followed for 12 years. Clinical findings, natural history, and the presence of nemalin myopathy suggest the possibility of a distinct form of multiple pterygium syndrome in this patient.
Prenatal diagnosis policy without routine amniocentesis in pregnancies with a positive family history for neural tube defects
Authors: Papp Zoltán , Tóth Zoltán , Török Olga , Szabó Mária , Reynolds James F. 
Published: June 2005

AbstractThe recurrence risk for neural tube detects in pregnancies of women with a family history of neural tube defects greatly exceeds the general population risk. In these high risk pregnancies, we used a prenatal diagnostic method differing from thai usually employed, relying mainly on the results of maternal serum alpha‐fetopro‐tcin (MSAFP) and ultrasound examination, without routine aminocentcsis. During the b years reviewed in this study, this method was applied in 539 pregnancies Of a total of 20 neural tube defects, 19 were detected using this combination oi MSAFP, ultrasound, and selective amnioccntcsis, and the authors estimate tha about 8–10 spontaneous abortions were avoided because only 28 amnioccntese; were carried out instead of 539. The risk of recurrence was found to be lowei than that experienced earlier.
Animal model: Renal lesions in cats with Chediak‐Higashi‐Steinbrinck syndrome
Authors: Hargis Ann M. , Prieur David J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn this study designed to characterize the renal lesions in cats with the autosomal recessive Chediak‐Higashi‐Steinbrinck syndrome (CHS), the renal tubular epithelial cells of CHS cats were examined by light microscopy. Numerous cells of proximal convoluted and straight tubules, thin loop of Henle, distal convoluted and straight tubules, and collecting tubules contained enlarged cytoplasmic granules morphologically consistent with lysosomes. In general, the enlarged lysosomes were larger and more numerous in proximal convoluted and straight tubular cells and were generally more massive in older cats. The lesions observed were similar to those in the renal epithelial cells of other species with CHS and were consistent with those reported previously in other tissues of CHS cats. It is concluded that CHS cats are an appropriate model in which to study the effects of the CHS renal lesions on renal function in this syndrome.
Intended use of predictive testing by those at risk for Huntington disease
Authors: Meissen Gregory J. , Berchek Roxanna L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHuntington disease (HD) is a late‐onset genetic disorder that is incurable and undetectable until the onset of symptoms. A marker for the gene that causes HD was recently discovered that will lead to a predictive test. The purpose of this research was to assess the attitudes, beliefs, and behavioral intentions concerning the impending predictive test by those at risk for HD. Results from a sample of 56 at‐risk individuals indicated that a majority (65%) favored using the presymp‐tomatic test and would encourage their adult children to use it as well. Fewer but still a substantial percentage of respondents would use the prenatal test (42%) and would test at‐risk minors (35%). Surprisingly, knowledge about predictive testing was quite low and a majority of those least knowledgeable about predictive testing intended to use the test. These findings emphasized the need for outreach and prevention efforts to prepare the at risk and specialized programs of genetic counseling and follow up to accompany predictive testing.
A new syndrome with features of the Smith‐Lemli‐Opitz and Meckel‐Gruber syndromes in a sibship with cerebellar defects
Authors: Casamassima Anthony C. , Mamunes Peter , Gladstone Igor M. , Solomon Stuart , Moncure Charles , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Smith‐Lemli‐Opitz syndrome (SLOS) and the Meckel syndrome (MS) have been regarded as separate autosomal recessive entities. Recently, overlap of these two syndromes has been discussed. A sibship cóntaining a probable new syndrome with features reminiscent of the SLOS and the MS is presented. The literature is reviewed with regard to the frequency of various malformations in these syndromes. Clinical manifestations and cerebellar abnormalities in these sibs are similar to those described in the Joubert syndrome (JS). These three cases may represent a new syndrome with features in common with SLOS, MS, and JS resulting from the same mutant gene, which exhibits considerable pleiotropy.
A clinico‐genetic investigation of Leydig cell hypoplasia
Authors: Saldanha P. H. , Arnhold I. J. P. , Mendonça B. B. , Bloise W. , Toledo S. P. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male‐limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.
Renal‐hepatic‐pancreatic dysplasia: A syndrome reconsidered
Authors: Bernstein Jay , Chandra Manju , Creswell Jim , Kahn Ellen , Malouf Nadia N. , McVicar Melinda , Weinberg Arthur G. , Wybel Robert E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFive infants, three dying neonatally and two later in the first year of life, had renal, hepatic, and pancreatic dysplasia, a combination of abnormalities first described by Ivemark et al [1959]. The renal malformation consisted of cystic dysplasia, with abnormally differentiated ducts, deficient nephron differentiation, and glomerular cysts. The hepatic abnormality consisted of enlarged portal areas containing numerous elongated biliary “profiles,” with a tendency to perilobular fibrosis. Serial liver biopsies in one child with cholestasis from birth showed a progression from bile duct paucity at 11/2 wk to typical biliary “dysgenesis” at 7 mo. Four of the five children had intrahepatic ductal dilatation, diagnosed ante mortem in the two older children as Caroli disease. The pancreatic abnormality consisted of fibrosis and cysts, with a diminution of parenchymal tissue. The clinical and functional reflection of these abnormalities in the two children surviving the newborn period included renal insufficiency, chronic jaundice, and insulin‐dependent diabetes mellitus. Similar renal, hepatic, and pancreatic abnormalities occur in other syndromes, including trisomy 9, Meckel syndrome, Jeune, Saldino‐Noonan, and Elejalde types of chondrodysplasia, and glutaric aciduria II. After exclusion of identifiable syndromes, the remaining cases of renal‐hepatic‐pancreatic dysplasia do not necessarily constitute a homogeneous group.
Megalocornea and mental retardation syndrome: Two new cases
Authors: Del Giudice Ennio , Sartorio Renata , Romano Alfonso , Carrozzo Romeo , Andria Generoso , Neri Giovanni 
Published: June 2005

AbstractWe report on 2 patients with the Neuhäuser megalocornea‐mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 minimal diagnostic criteria. Short stature, seizures, neurological symptoms, microcephaly or macrocephaly, and minor anomalies are all additional nonobligatory manifestations. The small number of published cases may be due to the fact that the association of these two signs has often escaped attention until now.
A case of the Neu‐Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings
Authors: Muller Linnie M. , de Jong Greetje , Mouton S. C. E. , Greeff M. J. , Kirby P. , Hewlett R. , Jordaan H. F. , Reynolds James F. 
Published: June 2005

AbstractA diagnosis of the NeuLaxova syndrome was made by ultrasonography in the third trimester of pregnancy.Initial Ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits.The clinical features of this case are consistent with group II of Curry's classification of the Neu‐Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed.In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6–8 wk for accurate dating, at 12–16 weeks for active fetal limb movement, and at 16–24 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.
Agenesis of succedaneous teeth: An expression of the homozygous state of the gene for the pegged or missing maxillary lateral incisor trait
Authors: Witkop Carl J. , Reynolds James F. 
Published: June 2005

AbstractAgenesis of the permanent teeth that replace the primary teeth, the succedaneous teeth, was found in children from two kindreds wherein both parents had pegged maxillary lateral incisor teeth. The trait small‐pegged‐missing maxillary lateral incisor teeth is inherited in an autosomal dominant manner, as demonstrated in the literature and in these families. Agenesis of succedaneous teeth is most likely an autosomal recessive trait due to the homozygous state of the gene for small‐pegged‐rnissing maxillary incisor teeth.
Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients
Authors: Pawlowitzki I. Harry , Diekstall Peter , Schadel Alex , Miny Peter , Reynolds James F. 
Published: June 2005

AbstractThe frequency of Kallmann syndrome (hypogonadotropic hypogonadism and anosmia, HHA) was estimated in patients presenting with hypogonadism and patients with anosmia. Of 791 hypogonadal males 19 had HHA. The frequency of IIHA was about 1:25 (n = 8/189) in outpatients questioned about their sense of smell, about 1:50 (n = 11/579) in patients whose blood samples were sent to us for chromosome analysis, and about 1:30 (n = 19/605) in males with hypogonadism and 46,XY chromosomes. The relation of patients with HHA to those with Klinefelter syndrome was 1:10 (n = 19/186). From 24 patients presenting with anosmia we found 1 hitherto undiagnosed case of HHA. The mean age at diagnosis was 24.8 and 24.9 years in our cases and cases from literature, respectively. These data provide evidence that Kallmann syndrome is not infrequent and that most patients remain undiagnosed until the third decade of life. Earlier diagnosis is emphasized by questioning each hypogonadal patient about his sense of smell because therapeutic success seems to be age dependent.
Dandy‐Walker (like) malformation, atrio‐ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?
Authors: Ritscher Daniel , Schinzel Albert , Boltshauser Eugen , Briner Jakob , Arbenz Urs , Sigg Peter 
Published: June 2005

AbstractWe report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina pari‐etalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low‐set ears. Patient 1 had a Dandy‐Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy‐Walker variant was found with aplasia of the cerebellar vermis and hypo‐plasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio‐ventricular canal and died after unsuccessful heart operation at 31/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occur‐rence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a “new” syndrome caused by the homozygous state of an autosomal recessive gene.
Genetic analysis of serum lipid levels and blood pressure in a large kindred
Authors: Marazita Mary L. , Elston Robert C. , Namboodiri Kadambari K. , Hames Curtis G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 267‐member Caucasian kindred with a high incidence of cardiovascular disease, originally from Evans County, Georgia, was chosen for genetic analysis of serum lipid levels and blood pressure. Total serum cholesterol, triglycerides, high density lipoprotein cholesterol (HDL), and systolic and diastolic blood pressures were natural logarithm transformed and then adjusted for significant age, sex, and behavioral trait effects. Major gene pedigree analysis was used to estimate genetic parameters and to test hypotheses about the mode of transmission of each trait. Multivariate methods were also used to estimate linear combinations of the variables that best fit genetic models.The data were consistent with a major gene segregating for high levels of triglycerides in this kindred. However, dominant and recessive hypotheses could not be distinguished. Although diastolic blood pressure fit a mixture of two distributions significantly better than a single normal, major gene hypotheses could be rejected while the no‐transmission hypothesis could not. There was no evidence of a major gene effect on cholesterol, HDL, systolic blood pressure, or any of the hypothetical traits represented by linear functions of the physical‐lipid traits.
Maternal serum alpha‐fetoprotein and fetal trisomy‐21 in women 35 years and older: Implications for alpha‐fetoprotein screening programs
Authors: Ashwood Edward R. , Cheng Edith , Luthy David A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA retrospective study of 3,411 women who underwent midtrimester amniocentesis for fetal chromosome analysis between June 1979 and August 1984 was performed to evaluate an association between low maternal serum alpha‐fetoprotein (AFP) concentrations and Down syndrome (DS) pregnancies. A total of 71 pregnancies was found with abnormal fetal chromosomes; of these, 26 cases were trisomy‐21 and 10 cases were trisomy‐18. The maternal serum AFP in women with DS fetuses was relatively lower than levels in women with fetuses that had normal chromosomes. In addition, the AFP concentrations in amniotic fluid were decreased in cases involving DS fetuses. We have estimated the risks for DS pregnancy at all maternal ages and most serum AFP concentrations. Using these calculations, genetic counselors will be able to provide more accurate risk estimates for trisomy‐21 following maternal serum AFP testing.
Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant
Authors: Gaba Arthur R. , Van Dyke Daniel L. , Weiss Laster , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe an infant with dysgenetie male pseudohermaphroditism and the karyotype 45, X/46, X,del (Y)(q11.1). Histologic examination of the resected gonads showed cortical dysplasia indicative of incipient gonadoblastoma.
Cat‐eye syndrome with different marker chromosomes in a mother and daughter
Authors: Ing Paul S. , Lubinsky Mark S. , Smith Shelley D. , Golden Ellen , Sanger Warren G. , Duncan Alessandra M. V. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractExcept for atypical eye findings in the daugher, a mother and daughter with bisatellited marker chromosomes had abnormalities consistent with cat‐eye syndrome. The mother's marker chromosome (mar number 1) is derived from one 22 and another acrocentric, possibly also a 22; the daughter's marker (mar number 2) may be an iso‐dicentric, inv‐dup (22) derivative of mar number 1. The mother has a tertiary trisomy translocation chromosome composed of at least one and perhaps two copies of 22pter → qll.2, whereas the daughter clearly has a second‐ary trisomy 22pter → qll.2 isochromosomc, confirming this region as a cause of cat‐eye syndrome. Results of hybridization using a unique sequence probe local‐ized to 22qll are consistent with the interpretation that both ends of both marker chromosomes are derived from 22.
Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities
Authors: Ehrich Elliot , Aranoff Gaya , Johnson William G. , Reynolds James F. 
Published: June 2005

AbstractWe report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system arc a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome.
Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere‐FRA(X)‐DXS15‐DXS52‐F8C‐telomere
Authors: Mulligan Lois M. , Grover Hilary J. , Blanchette Victor S. , Giles Alan R. , Lillicrap David P. , Phillips Ann , Holden Jeanette J. A. , White Bradley N. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe linkage relationship between the factor VIII gene (F8C) and the DXS52 locus was examined in 8 families. Two recombinations were identified in 35 informative meioses (Zmax= 5.67; θ = 0.05), one in a family with hemophilia A, the other in a family with the fra(X) syndrome. Based on the latter recombination, the most probable order of loci was determined to be centromere‐fra(X)‐DXSl5‐DXS52‐F8C‐telomere. When these data are added to those reported previously the most probable genetic distance between F8C and DXS52 is 3 cM (Z = 14.62). Identification of these and other recombinations suggests that the use of DXS52 as a genetic marker for carrier detection and prenatal diagnosis of hemophilia A has an error rate between 3–5%.