bluuebunny/crossref_metadata_2025_split huggingface dataset:
Visceral anomalies in the Apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven 
Published: June 2005

AbstractWe report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n =; 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise. © 1993 Wiley‐Liss, Inc.
Exstrophy of the cloaca in a 47,XXX child: Review of genitourinary malformations in triple‐X patients
Authors: Lin Henry J. , Ndiforchu Fombe , Patell Shibani 
Published: June 2005

AbstractCloacal exstrophy, unilateral renal agenesis, and Müllerian anomalies occurred in a live‐born infant with a 47,XXX chromosome constitution. The patient extends the range of genitourinary anomalies reported in triple‐X patients. Screening asymptomatic patients for urinary tract abnormalities may be useful in searching for silent malformations potentially associated with this karyotype. © 1993 Wiley‐Liss, Inc.
Holzgreve syndrome: Recurrence in sibs
Authors: Thomas I. T. , Honore G. M. , Jewett T. , Velvis H. , Garber P. , Ruiz C. 
Published: June 2005

AbstractWe report on 2 sibs with cardiac and renal abnormalities. The first had hypoplastic left heart sequence and renal hypoplasia; the second had a complex congenital heart defect, renal agenesis, and cleft lip and palate. We suggest that these cases represent the first familial examples of the Holzgreve syndrome. As such, they demonstrate the phenotypic variability seen in sibs, and may serve to further delineate the syndrome. © 1993 Wiley‐Liss, Inc.
Mosaic 5p tetrasomy
Authors: Stanley Wayne S. , Powell Cynthia M. , Devine Grace C. , Ellingham Tara , Samango‐Sprouse Carole A. , Vaught Donna R. , Murphy Bridget A. , Rosenbaum Kenneth N. 
Published: June 2005

AbstractWe report on a mildly abnormal 5‐year‐old girl with seizures, psychomotor retardation, and areas of hyperpigmentation who had a super‐numerary marker chromosome in fibroblasts which was identified as an i(5p). To our knowledge, this is the first reported case of tetrasomy 5p. She shares in common some, but not all, manifestations of the dup (5p) syndrome. Cytogenetic analysis of relatives showed that the phenotypically apparently normal mother, maternal grandmother, and a brother of the proband also had a marker chromosome in their lymphocytes which was unrelated to the i(5p). © 1993 Wiley‐Liss, Inc.
Atypical clinical presentation of ataxia telangiectasia
Authors: Willems Patrick J. , Van Roy Bernadette C. , Kleijer Wim J. , Van der Kraan Magna , Martin Jean‐Jacques 
Published: June 2005

AbstractAtaxia telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous tel‐angiectasias, immunodeficiency with recurrent infections, IgA and IgE deficiency, and increased incidence of malignancies. The pathognomonic biological abnormalities consist of spontaneous chromosomal instability resulting in a high in vivo occurrence of cells with translocations, especially involving chromosomes 7 and 14, and a relative insensitivity of DNA replication in vitro to radiation exposure.We report on a patient with the biological hallmarks of AT but with atypical clinical manifestations. Although progressive cerebellar ataxia was present, the neurological picture was broader than that usually seen in AT and included peripheral polyneuropathy and spinal atrophy. On the other hand, tel‐angiectasias, recurrent infections, malignancies, IgA deficiency, or other immunological abnormalities were not present. This illustrates that the clinical picture of AT is broad and nonspecific, and highlights the diagnostic value of cytogenetic analysis and studies of radioresistance of DNA synthesis. © 1993 Wiley‐Liss, Inc.
Sandrow syndrome of mirror hands and feet and facial abnormalities
Authors: Kogekar Nandini , Teebi Ahmad S. , Vockley Jerry 
Published: June 2005

AbstractIn 1970, Sandrow et al. (J Bone Joint Surg 52‐A:363–370) described a syndrome of ulnar and fibular dimelia with facial abnormalities present in 2 generations in a family. We describe a new patient with similar manifestations, establishing this constellation of anomalies as a distinct syndrome. © 1993 Wiley‐Liss, Inc.
Heterogeneity versus variability in megalocornea‐mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
Authors: Verloes Alain , Journel Hubert , Elmer Catherine , Misson Jean‐Paul , Le Merrer Martine , Kaplan Josseline , Van Maldergem Lionel , Deconinck H. , Meire Françoise 
Published: June 2005

AbstractMegalocornea (corneal diameter ≥ 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhäuser syndrome (megalocornea‐mental retardation syndrome). Here we report 4 new cases of megalocornea and mental retardation. Those unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhäuser et al. [1975]. We discuss the heterogeneity of the syndromes with megalocornea and mental retardation. Based on these caes and on a review of the literature, we suggest a provisional clinically oriented classification in 5 subtypes: (1) a recessive form type Neuhäuser (with iris hypoplasia and minor anomalies), (2) a recessive form type Frank‐Temtamy (with camptodactyly, scoliosis and growth retardation), (3) a recessive type 3 including our 4 personal cases (with normal irides, severe hypotonia, relative or absolute macrocephaly and minor anomalies), (4) a possible Frydman type (with normal irides, megalencephaly and obesity), and (5) provisionally unclassifiable cases. © 1993 Wiley‐Liss, Inc.
Effect of laboratory or clerical error on presymptomatic risk calculations for Huntington disease: A simulation study
Authors: King T. M. , Brandt J. , Meyers D. A. 
Published: June 2005

AbstractLinked markers are useful in prenatal diagnosis as well as presymptomatic diagnosis in late age‐of‐onset diseases such as Huntington disease (HD). It is widely assumed that most laboratory or clerical errors will be detected because of incompatibility of marker haplotypes within the family. However, errors in marker phenotypes that are compatible but wrong may result in a consultand being given an incorrect risk estimate. We have addressed this issue using simulated marker data in pedigress similar to those seen in our HD testing program. In Family Structure I (an 11‐member, 3‐generation family), a particular family was more likely to be detected as inconsistent than incorrectly assigned. In a small nuclear family (Family Structure IV), Fewer errors would be detected, and more would appear consistent but give incorrect risk estimates (e.g., low risk misclassified as noninformative or high). Given the presence of tight linkage, risk estimates are often calculated based on a small number of relatives. However, these computer simulations demonstrated that increasing the number of relatives types decrease the probability that the family will remain consistent with an error present, and, therefore, decreases the probability of an incorrect assignment of risk. It is important to decrease the level of such errors by duplicated readings of raw marker data and validation of computer input. © 1993 Wiley‐Liss, Inc.
Brachydactyly type A‐4 (Temtamy type) with short stature in a Japanese girl and her mother
Authors: Ohzeki Takehiko , Hanaki Keiichi , Motozumi Hiroko , Ohtahara Hiroko , Shiraki Kazuo , Yoshioka Kimiko 
Published: June 2005

AbstractWe report on a Japanese girl and her mother with brachydactyly. Their 2nd and 5th middle phalanges were short and the latter was fused with the distal phalanx in one of the patients. Length and shape of proximal and distal phalanges as well as metacarpals seemed normal. These findings are consistent with brachydactyly type 4‐A, which is a rare subtype and has not been adequately documented. Short stature was reported only in some cases of brachydactyly type A‐1, A‐6, C, and E, but not in the other subtypes. Our patients with type A‐4 brachydactyly also had short stature. © 1993 Wiley‐Liss, Inc.
Renal findings in 40 individuals with Williams syndrome
Authors: Pober Barbara R. , Lacro Ronald V. , Rice Cynthia , Mandell Valerie , Teele Rita L. 
Published: June 2005

AbstractWe tabulated the frequency of renal abnormalities in 40 Williams syndrome individuals presenting for medical and/or developmental assessment to a multi‐disciplinary Williams syndrome program. The average age at time of assessment was 72/12 years. Seven individuals (7/40 = 18%) had abnormalities detected, including nephrocalcinosis = 2; marked asymmetry in kidney size = 2; small kidneys = 1; solitary kidney = 1; and pelvic kidney = 1.Renal function was also assessed. Two individuals had evidence of renal dysfunction, one secondary to nephrocalcinosis and the second due to hypercalcemia and interstitial nephritis of unclear pathogenesis.We examined the frequency of renal artery stenosis in 9 individuals who underwent abdominal angiography during cardiac catheterization. We found unilateral or bilateral mild renal artery narrowing in 4 individuals and normal renal arteries in the remaining 5. Persistent hypertension occurred in only 2 individuals and did not correlate with renal artery status.We conclude that intrinsic renal anomalies, as well as problems secondary to hypercalcemia, occur with sufficient frequency to warrant baseline renal screening in all individuals with Williams syndrome. © 1993 Wiley‐Liss, Inc.
Apparent dominant transmission of the Rubinstein‐Taybi syndrome
Authors: Marion Robert W. , Garcia Diana M. , Karasik Jeffrey B. 
Published: June 2005

AbstractThe cause of the Ruinstein‐Taybi syndrome (RTS), a multiple congenital anomalies/mental retardation (MCA/MR) syndrome first described in 1963, remains obscure. Recently, a deletion of chromosomal material at 16p13.3 has been found in some patients with the disorder, but no such deletion can be identified in the majortity of affected individuals. Although the disorder has been well documented to be concordant in at least 7 monozygotic twin pairs and in one non‐twin sib pair, only one clear‐cut case of parent‐to‐child transmission has been reported previously. We present here a mother and daughter, both of whom appear to be affected with RTS, strongly suggesting either autosomal or X‐linked dominant transmission. The paucity of previous cases of parent‐to‐child transmission may be related to either decreased fertility or decreased fitness in affected individuals. © 1993 Wiley‐Liss, Inc.
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies
Authors: Zori Roberto T. , Gray Brian A. , Bent‐Williams Angela , Driscoll Daniel J. , Williams Charles A. , Zackowski Joleen L. 
Published: June 2005

AbstractWe report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation [46,X,t(X;9)(p22.1;q32)mat] inherited from a previously diagnosed mosaic translocation carrier mother [46,XX/46,X,t(X;9)(p22.1;q32)]. Replication studies on amniocytes showed the normal X chromosome to be late replicating while the same studies repeated on the infant's lymphocytes showed the translocated X chromosome to be late replicating in most cells. Late replication studies of the mother's lymphocytes demonstrated that the normal X chromosome was late replicating in most cells. The presence of Nager syndrome in this infant may be the result of critical break‐points and/or position effects on chromosome 9, inducing expression of a gene responsible for the syndrome. © 1993 Wiley‐Liss, Inc.
Effect of fragile X on physical and intellectual traits estimated by pedigree analysis
Authors: Loesch Danuta Z. , Huggins Richard M. , Chin Wai Fong 
Published: June 2005

AbstractA maximum likelihood scoring technique for analysis of pedigree data, which allows for estimation of random effects (variance components) concurrently with other “fixed” effects in a quantitative trait, was applied to establish the effect of the fragile X condition in the variation of intellectual and physical traits. In 52 fragile X families, intellectual status was represented by measures of vocabulary knowledge (PPVT) and of nonverbal visuospatial skills (BDT), and physical status by a combined physical (anthropometric) score, and jaw length. The fixed effects included fragile X and sex and their interaction on the mean and covariances between relatives for the intellectual and physical scores. The random effects included environmental (common and individual) and genetic (additive and dominance) components. Different genetic models were tested by the likelihood ratio criterion, and the maximum likelihood parameters for each of the three scores were based on the most appropriate models.The effect of fragile X on the mean values was found to be significant for all the traits, and much more conspicuous in male than in female individuals, the effects in the PPVT and the anthropometric score being intercorrelated. The effect of fragile X on growth of a single physical trait relative to height was demonstrated using jaw length as an example. We have also demonstrated an effect of fragile X on genetic (additive) variance, as well as on the mean of the BDT score, and the effect of age on the nongenetic variance of PPVT, and jaw length. © 1993 Wiley‐Liss, Inc.
Confirmation of trisomy 22 in two cases using chromosome painting: Comparison with t(11;22)
Authors: Slater H. R. , Voullaire L. E. , Vaux C. E. , Bankier A. , Pertile M. , Choo K. H. A. 
Published: June 2005

AbstractWe present a nonmosaic case of trisomy 22 in a liveborn, abnormal infant and a second case of a fetus who died in utero. Both have been verified cytogenetically and confirmed by in situ hybridisation with a centromeric alphoid probe and chromosome painting. The accuracy of the combined cytogenetic and molecular cytogenetic approaches in the karyotype determination is highlighted by comparison with a case showing partial translocation of chromosome 22 in t(11;22) (q23;q11). © 1993 Wiley‐Liss, Inc.
Assessment of subcutaneous fat using ultrasonography in the Ullrich–Turner syndrome
Authors: Ohzeki Takehike , Hanaki Keiichi , Motozumi Hiroko , Ohtahara Hiroko , Urashima Hiroshi , Shiraki Kazuo 
Published: June 2005

AbstractSubcutaneous fat was measured using an ultrasonic method (SF‐US) in girls with Ullrich–Turner syndrome (UTS) and in height and weight‐matched controls. The method is not influenced by changes in cutaneous compressibility, which is frequently abnormal in UTS especially at a younger age. SF‐US in the arms was significantly less in UTS patients (ulnar SF‐US: P < 0.05; triceps SF‐US: P < 0.005) than in the control girls. Results in suprailiac SF‐US measurement was also similar (P<0.05). Though the mean SF‐US in the subscapular region was less in UTS patients than the control girls, there was no statistically significant difference. It is demonstrated that subcutaneous fat in UTS patients is less in their arms than in girls without UTS and that trunkal fatness is not increased but rather decreased in the UTS. The ratio of lean body mass to weight seems higher in UTS patients than in girls with similar weight and height. © 1993 Wiley‐Liss, Inc.
Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder
Authors: Nöthen Markus M. , Knöpfle Gisela , Födisch Hans‐Jörg , Zerres Klaus 
Published: June 2005

AbstractWe report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congential hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial limb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies. © 1993 Wiley‐Liss, Inc.
Genetic epidemiological studies of early‐onset deafness in the U.S. school‐age population
Authors: Marazita Mary L. , Ploughman Lynn M. , Rawlings Brenda , Remington Elizabeth , Arnos Kathleen S. , Nance Walter E. 
Published: June 2005

AbstractProfound, early‐onset deafness is present in 4–11 per 10,000 children, and is attributable to genetic causes in at least 50% of cases.Family history questionnaires were sent to 26,152 families of children with profound, early‐onset deafness not known to be related to an environmental cause. The probands were ascertained through the 1988–89 Gallaudet University Annual Survey of Hearing Impaired Children and Youth. The analysis is based on the responses that were received from 8,756 families.Classical segregation analysis was used to analyze the family data, and to estimate the proportions of sporadic, recessive and dominant causes of deafness in the families. These data were consistent with 37.2% of the cases due to sporadic causes, and 62.8% due to genetic causes (47.1% recessive, and 15.7% dominant). An earlier study using the 1969–70 Annual Survey found 49.3% sporadic cases and 50.6% genetic, demonstrating that the proportion of sporadic cases of early‐onset deafness has significantly decreased since 1970. © 1993 Wiley‐Liss, Inc.
Aarskog syndrome: Report of a family with review and discussion of nosology
Authors: Teebi Ahmad S. , Rucquoi J. K. , Meyn M. S. 
Published: June 2005

AbstractFive individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed. © 1993 Wiley‐Liss, Inc.
Precise mapping of a de novo duplication 18(q21→q22) utilizing cytogenetic, biochemical, and molecular techniques
Authors: Wolff Daynna J. , Schwartz Marcia F. , Cohen Maimon M. , Schwartz Stuart 
Published: June 2005

AbstractWe describe the first de novo inverted duplication of 18q. Due to the difficulty of identifying de novo chromosome abnormalities based solely on cytologic studies, precise definition of the 18q duplication was attempted by integrating cytogenetic and clinical findings with biochemical and molecular dosage studies. The combined results demonstrated that the proposita had a duplication of 18q21→q22 with a karyotype of 46,XX,–18,+inv dup(18) (pter→q12.1::q22→q21::q12.1→qter). The duplication of this specific chromosome region does not result in the typical 18 phenotype, supporting the hypothesis that various loci on chromosome 18 may interact to produce the manifestations of this syndrome. © 1993 Wiley‐Liss, Inc.
Congenital heart disease associated with sporadic Kallmann syndrome
Authors: Cortez Alan B. , Galindo Alvaro , Arensman Frederick W. , van Dop Cornelis 
Published: June 2005

AbstractA 17‐year‐old boy with Kallmann syndrome had complex congenital heart disease that included double‐outlet right ventricle, d‐malposition of the great arteries, right aortic arch, and hypoplastic main pulmonary artery. He had neurosensory hearing loss and mental retardation. The 7 previously reported patients with Kallmann syndrome and cardiac abnormalities were short with height ≥2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were mentally retarded (4/4). Patients presenting with Kallmann syndrome and congenital heart defects appear to represent a distinct subgroup of patients with Kallmann syndrome. The cause of this association is unclear, but may involve either autosomal recessive inheritance, sporadic dominant mutation, or a shared teratogenic event during the first trimester of gestation. © 1993 Wiley‐Liss, Inc.
Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: Delineation of a newly recognized overgrowth syndrome
Authors: Moretti‐Ferreira Danilo , Koiffmann Célia P. , Listik Márcia , Setian Nuvarte , Wajntal Anita 
Published: June 2005

AbstractWe describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of palpebral fissures, mental retardation, and delayed bone maturation. Both cases are of sporadic occurrence with no consanguinity between the parents. We suggest that this syndrome is due to a new autosomal dominant mutation and propose to designate it with the acronym of “MOMO syndrome” (Macrosomia, Obesity, Macrocrania, Ocular anomalities). © 1993 Wiley‐Liss, Inc.
Simpson‐Golabi‐Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow‐up of a previously reported case
Authors: Chen Emily , Johnson John P. , Cox Victoria A. , Golabi Mahin 
Published: June 2005

AbstractThis report suggests the association of congenital diaphragmatic hernia in Simpson‐Golabi‐Behmel syndrome by describing two unrelated males with this malformation. One male was the maternal half‐nephew of our previously reported 8‐year‐old boy with this syndrome.Review of the skeletal roentgenograms of these 2 affected males, and those of the previously reported 8‐year‐old, documents flare of the iliac wings, narrow sacroiliac notches, and the presence of two carpal ossification centers as a newborn (“advanced bone age”).We also report the follow‐up of the 8‐year‐old boy, now 16 years old, who continues to have significant overgrowth and speech, dental, developmental, and adjustment problems. © 1993 Wiley‐Liss, Inc.
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia
Authors: Nienhaus H. , Mau U. , Zang K. D. , Henn W. 
Published: June 2005

AbstractWe describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the chromosomal disorder and the CCD. © 1993 Wiley‐Liss, Inc.