bluuebunny/crossref_metadata_2025_split huggingface dataset:
Brief clinical report: A genetic association between microcephaly and lymphedema
Authors: Crowe Carol A. , Dickerman Lois H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe discuss a family in which microcephaly and lymphedema are co‐segregating as an apparently autosomal or X‐linked dominant trait. A review of each malformation is presented with reference to the known genetic patterns of each. This combination of microcephaly and lymphedema may be a unique syndrome, previously undescribed because of subtleties of expression in affected individuals.
Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy: An autosomal recessive trait
Authors: Hamanishi Chiaki , Ueba Yasuo , Tsuji Takeo , Ijiri Shinichiro , Mihara Taku , Yamanaka Kiyoshi , Yamamuro Takao , Reynolds James F. 
Published: June 2005

AbstractThree sibs born to normal but consanguinous parents had flexion deformities of the thumb and fingers on one hand and sensory deficit in the other hand. Extensor muscles were absent or vestigial in all of them. Polyneuropathic electrophysiological findings were detected in 4 limbs. This is an apparently autosomal recessive trait previously unreported.
Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)
Authors: Smart Ronald D. , Ross Judy , Amann Gabriel , Nelson Matilda M. , Reynolds James F. 
Published: June 2005

AbstractOne fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX, del 7, rcp(7;18)(q34;21)]. The parents had had a previous infant described as having possible holoprosencephaly, but no medical records were available to substantiate this description.
Keutel syndrome: Clinical report and literature review
Authors: Cormode Edward J. , Dawson Malcolm , Lowry R. Brian , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn 1972 Keutel et al described a brother and sister with brachytelephalangism, hearing loss, peripheral pulmonary stenosis and abnormal cartilage calcification. Since then, three additional cases have been reported. We report a sixth case and discuss the clinical findings and cause.
Prevalence of mitral‐valve prolapse in the Stickler syndrome
Authors: Liberfarb Ruth M. , Goldblatt Allan , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAn increased prevalence of mitral‐valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers‐Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral‐valve prolapse by ausculation and two‐dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, sensorineural hearing loss, eye defects, and a family history of Stickler syndrome. Twenty‐six patients (45.6%) had mitral‐valve prolapse, including 11 of 22 females (50.0%) and 15 of 35 males (42.9%). The age range of our study population was 4 to 60 years. Prevalence of mitral‐valve prolapse did not increase with age. Nine patients (34.6% of those with mitral‐valve prolapse) had the click‐murmur syndrome; only one of them was symptomatic.Because of the growing list of complications associated with mitral‐valve prolapse, all patients with Stickler syndrome should be evaluated by auscultation, electrocardiogram, and echocardiography. Those with mitral‐valve prolapse should be advised to have periodic follow‐up and to instruct physicians caring for them of their need for antibiotic prophylaxis with certain surgical procedures.
Lethal osteogenesis imperfecta with amniotic band lesions: Collagen studies
Authors: van der Rest M. , Hayes A. , Marie P. , Desbarats M. , Kaplan P. , Glorieux F. H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAn infant was born with osteogenesis imperfecta (OI) and died after 7 days. In addition, there were amniotic constriction bands and amputations of several digits of the upper and lower limbs. The radiologic picture was suggestive of type III OI. Histomorphometric analysis of the bone showed a trabecular bone volume of 15.1% compared to 26.9% for age‐matched controls. This was due to a decreased apposition of matrix by the osteoblasts. Because abnormal collagen synthesis has been suggested as the underlying defect in most forms of OI, collagen studies were undertaken using intact tissues.Bone and skin collagen solubilities were strikingly reduced. Shortened type I collagen molecules, representing 25% of the total type I collagen, were produced by pepsin digestion of the demineralized bone matrix. The molecular weight of the shortened collagen, was 10 kd lower than normal for both the α1 and α2 chains as determined by gel electrophoresis. The bone acetic acid‐soluble collagen showed few shotened α‐chains. Twenty‐five percent of the acid‐soluble bone collagen was cleaved into shortened molecules by a pepsin digestion. The shortened α1 chain was purified by high‐performance liquid chromatography (HPLC).
Mendelian inheritance of isolated nonsyndromic cleft palate
Authors: Rollnick Beverly R. , Kaye Celia I. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIsolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three unrelated white families with 17 relatives in several generations affected with CP, including submucous CP and bifid/absent uvula. We could find no evidence of a cleft syndrome. In one family, the pattern is consistent with autosomal dominant inheritance. In 2 families, the pattern is consistent with X‐linked recessive inheritance. The specific findings and their implications for family evaluation and genetic counseling are discussed.
Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son
Authors: Hunter Alasdair G. W. , Feldman William , Miller Jonathan , Reynolds James F. 
Published: June 2005

AbstractWe report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and this upper lip. They both had a similar metacarpal‐phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison to other family members, and the son had hypogonadotropic‐hypogonadism and anosmia. We favor the hypothesis of a single autosomal dominant gene with variable expression of the hypogonadism and anosmia, although there are alternative explanations for the combination.
Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: Indication of gene localization
Authors: Malpuech Georges , Sultan Charles , Bertheas Marie‐Francoise , Loire Corinne , Renaud Hubert , Francannet Christine , Vanlieferinghen Philippe , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. We hypothesize that a gene responsible for the function or structure of androgen receptors might be localized in the 11p13 band or in close proximity to it.
Reduced plasma haptoglobin and urinary taurine in familial seizures identified through the multisib strategy
Authors: Haines Jonathan L. , Panter S. Scott , Rich Stephen S. , Eaton John W. , Tsai Michael Y. , Anderson V. Elving , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe multisib (MS) sampling strategy was used for detecting possible genetic influences on a complex and heterogeneous disorder. The MS strategy increases the likelihood of selecting pedigrees for single genetic factors and allows the efficient analysis of data. The collection of complete pedigrees will procure additional data, but at a large marginal expense. The MS ascertainment procedure was applied to seizure disorders by examination of taurine excretion levels and by conducting two‐dimensional gel electrophoresis of plasma proteins. Reduced taurine excretion (proposed to be genetically controlled) was found to associate with seizures, particularly in those individuals with a generalized spike and wave (GSW) EEG, or in families with a GSW‐seizure history. Examination of two‐dimensional gels showed hypohaptoglobinemia in several seizure patients [Panter et al, 1984]. The frequency of hypohaptoglobinemia is greatly increased in familial seizure cases, and may also be genetically controlled. Thus the MS strategy has proven successful in identifying kindreds in which specific physiological alterations may contribute toward the complex phenotype of seizures.
A new category of lethal short‐limbed dwarfism
Authors: Knowles Simon , Winter Robin , Rimoin David , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a first cousin marriage between Asians which resulted in 13 pregnancies; 4 of the offspring were normal, 5 were stillborn dwarves, 3 pregnancies resulted in miscarriage, and one was terminated for dwarfism detected prenatally. The radiology and histology are unique and the predigree suggests autosomal recessive inheritance.
A distinct lethal neonatal chondrodysplasia with snail‐like pelvis: Schneckenbecken dysplasia
Authors: Borochowitz Z. , Jones K. L. , Silbey R. , Adomian G. , Lachman R. , Rimoin D. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal chondrodysplasia inherited as an autosomal recessive trait. The characteristic radiographic findings consist of flattened, hypoplastic vertebral bodies; short ribs; hypoplastic iliac bones with “a snail‐like” configuration; short, broad long‐bones with dumbbell‐like appearance; short and wide fibula; and precocious ossification of the tarsus. Chondro‐osseous histology is characteristic with hypervascularity, increased cellular density, and normal size chondrocytes with a centrally located round nucleus and absence of lacunar space. Because of the snail‐like radiographic appearance of the pelvis in this disorder, we propose the name “Schneckenbecken dysplasia” (ie, German for snail pelvis).
Prenatal ultrasonographic features of the Pena–Shokeir I syndrome and the trisomy 18 syndrome
Authors: Muller Linnie M. , de Jong Greetje , Reynolds James F. 
Published: June 2005

AbstractThe prenatal ultrasonographic features found in two cases each of the Pena‐Shokeir I and the trisomy 18 syndromes are described. All four cases were referred for ultrasonographic evaluation of polyhydramnios, clinically detected in the third trimester. A detailed ultrasonographic study of the craniofacial structures, intrathoracic organs, and limbs showed scalp edema, multiple ankyloses, camptodactyly, rocker‐bottom feet, cardiac arrhythmias, and lung hypoplasia. Chromosome analysis showed trisomy 18 in two cases; in the other two cases the diagnosis of the Pena–Shokeir I was confirmed after delivery. The similarity of the two syndromes with respect to ultrasound findings is discussed.
Psychological response to amniocentesis: II. Effects of coping style
Authors: Phipps Sean , Zinn Arthur B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDifferences in coping style were assessed in a group of women undergoing amniocentesis and a control group not having the procedure. Subjects were divided into two groups according to coping style; “monitors” (information seekers) and “blunters” (information avoiders). In the amniocentesis group, coping style was associated with differences in mood state and change in mood state over time. “Monitors” experienced greater mood disturbance than “blunters” both before and during the procedure, but this effect disappeared after communication of amniocentesis results. Coping style was nor associated with differences in maternal attitudes toward pregnancy or maternal‐fetal attachment. In the control group, there were no differences between “monitors” and “blunters” on any of the mood state or pregnancy measures. Implications of these findings for providers of genetics services are discussed.
Abdominal distension in Kaufman‐McKusick syndrome
Authors: Farrell S. A. , Davidson R. G. , DeMaria J. E. , Grant L. , Toi A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA female infant with Kaufman‐McKusick syndrome redeveloped respiratory distress and abdominal distention at 5 weeks of age. Ultrasonography demonstrated recurrence of peritoneal cysts and hydrometrocolpos. It is postulated that refluxing vaginal secretions may contribute to the abdominal distention seen in many infants with Kaufman‐McKusick syndrome.
Interstitial 7q deletion [46,XY,del (7) (pter → cen::q112 → qter)] in a retarded quadriplegic boy with normal beta glucuronidase
Authors: Frydman Moshe , Steinberger Julia , Shabtai Fiorella , Steinherz Reuben , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 14‐year‐old severely retarded male with deletion of chromosomal band 7 cen → q112 is described.Clinical features include short stature, microcephaly, unusual facies with narrow forehead, short nose, malar hypoplasia, protruding alveolar ridges and incisors, receding chin, relatively long philtrum, and large ears. In addition, he had bilateral inguinal herniae cryptorchidism with hypogonadism, pulmonic stenosis, and spastic quadriplegia.Normal activity of beta‐glucuronidase was found in the patient's leukocytes. This finding suggests that the gene is not in the deleted region, narrowing the smallest region of overlap to 7q112 → q22.
An unusal case of ectodermal dysplasia
Authors: Cortes Fanny , Lacassie Yves , Fraser F. Clarke , Preus Marilyn 
Published: June 2005

AbstractThe syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.
Long survival in a 69,XXY triploid male
Authors: Sherard J. , Bean Charles , Bove Betsy , DelDuca Vincent , Esterly K. L. , Karcsh Henry J. , Munshi Gaurang , Reamer James F. , Suazo Gloria , Wilmoth Donna , Dahlke Mariam B. , Weiss Carol , Borgaonkar Digamber S. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant with a 69,XXY chromosone constitution who survived for 10½ months; this is the longest survival reported with this condition to date. The infrequency of this disorder, data on natural history, and improved survival, possibly due to better management of respiratory illness and prematurity, are all factors worth noting in counseling on such rare conditions. Genotyping demonstrated the extra genome to be of maternal origin.
Balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)] in an infant with multiple congenital anomalies
Authors: Fukushima Yoshimitsu , Kuroki Yoshikazu , Ito Taizo , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a 1‐month‐old female infant with balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p) (11q;22p;21q)]. She had a multiple congenital anomalies syndrome of microcephaly, unilateral corneal staphyloma, hypoplastic thumbs, ectrodactyly of the right foot, brachydactyly of the left third toe, and syndactyly between the left fourth and the fifth toes. The complex chromosome rearrangements of the patient involve 8 breakpoints, the greatest number of breakpoints in complex chromosome rearrangements of humans known to us. The 8 breakpoints are 1p22, 3q27, 6p21, 7pl5, 1lp15, 11q11, 21q11, and 22p11. These are not related to any confirmed fragile sites. These double complex translocations seemed to have occurred de novo.
Neural tube defects in spontaneous abortions
Authors: Byrne Julianne , Warburton Dorothy , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractNine specimens with neural tube defects (NTDs) were ascertained in a consecutive series of spontaneous abortions in New York City, giving a rate of 10.2 per 1,000 testable embryos and fetuses. All seven successfully karyotyped abortions had a chromosome anomaly. The rate of NTDs in miscarriages in New York is only one‐third the rate in miscarriages in London, and the difference is due entirely to a deficit of fetuses with normal chromosomes. Our data, together with data from three other centers, indicate that there is a strongly positive association (r = 0.96) between rates of neural tube defects in early pregnancy and at term. The implications of these findings for genetic counseling and for etiologic studies are discussed.
New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome
Authors: Reynolds James F. , Neri Giovanni , Herrmann Jurgen P. , Blumberg Bruce , Coldwell James G. , Miles Paul V. , Opitz John M. , Carey John C. 
Published: June 2005

AbstractEight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio‐Facio‐Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis‐like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis
Authors: Pina‐Neto João M. , Moreno Aparecida Fátima C. , Silva Luis Roberto , Velludo Maria Angeles S. L. , Petean Eucia Beatriz L. , Ribeiro Maria Valeriana M. , Athayde‐Junior Luis , Voltarelli Júlio Cesar , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis is a report on four persons in one family with a condition similar to that described by Ramon et al [Oral Surg 24:436–48, 1967] in two sibs born to a consanguineous couple. Our patients also had mental deficiency, epilepsy, cherubism due to fibrous dysplasia of the maxillae, gingival fibromatosis, hypertrichosis, and stunted growth. This appears to be an autosomal recessive trait in both families. Our patients are the second set reported with this syndrome; they also have juvenile rheumatoid arthritis, which was not described in the family reported by Ramon et al [Oral Surg 24:436–48, 1967]. We conclude that the Ramon syndrome should also include juvenile rheumatoid arthritis.
Deletion of proximal 6q: A clinical report and review of the literature
Authors: Yamamoto Yoshifumi , Okamoto Noriko , Shiraishi Hirohiko , Yanagisawa Masayoshi , Kamoshita Shigehiko , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 13‐year‐old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter→ql3::ql5→qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, valgus heels with flat feet, and congenital heart defect seem to form part of a specific del 6q syndrome.
Duplication of 7q31.2→7qter and deficiency of 18qter: Report of two patients and literature review
Authors: Johnson Debra D. , Michels Virginia V. , Aas Martha A. , Dewald Gordon W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two male patients with a 46,XY, − 18, +der(18),t(7;18)(q31.2; q23)mat karyotype. Previously, 22 other patients with dup(7q) have been described, but only four of them had duplication of segment 7q31→ 7qter. The two patients in this study were ascertained independently and lived in different states. However, because of the rarity of this translocation, the patients were suspected to be related. The families were investigated extensively, and the patients were found to be third cousins once removed. Both patients had severe hypospadias, large fontanelles, cleft palate, and minor facial anomalies (square and prominent forehead, short, downslanting palpebral fissures, long eyelashes, long philtrum, short nose, thin vermilion border with downcurved upper lip). Their phenotypes were compared with those of previously described patients. One of the two patients described here is alive at 23 months and is the oldest known living patient with this chromosome abnormality. Apneic spells often are present and may be secondary to severe brain abnormalities, such as those identified in our two patients.
Pulmonary hypertension and interstitial fibrosis in von recklinghausen neurofibromatosis
Authors: Porterfield James K. , Pyeritz Reed E. , Traill Thomas A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractNeurofibromatosis von Recklinghausen (NFvR) has been reported to be associated with diffuse interstitial pulmonary fibrosis. We describe a patient with NFvR presenting in middle age with dyspnea and cyanosis. Chest radiographs showed right ventricular enlargement, dilated proximal pulmonary arteries, and bilaterally increased interstitial markings. Cardiac catheterization showed moderately severe pulmonary hypertension and no evidence of congenital heart defect. The interstitial fibrosis associated with NFvR can result in symptomatic pulmonary hypertension.
Acrocephalopolysyndactyly type II—Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes
Authors: Cohen Donald M. , Green James G. , Miller Janice , Gorlin Robert J. , Reed Jerry A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCarpenter syndrorne (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy‐ or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423–34, 1980].
Tibial hemimelia‐cleft lip/palate in a Brazilan child born to consanguineous parents
Authors: Richieri‐Costa A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a Brazilian boy with widely cleft lip and palate and bilateral tibial hemimelia. Normal consanguineous parents, unremarkable gestational antecedents, and normal peripheral lymphocytes and chromosomes suggest autosomal recessive inheritance.
Applications of the MEGADATS database system in medical genetics
Authors: Yount Emily A. , Conneally P. Michael , Gersting John M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe MEGADATS relational database system has many useful applications in the field of medical genetics. Some of these applications include storage, retrieval, and display of pedigree information; retrieval of sets of individuals, sibships, or families who meet given criteria; storage of necessary information for mailing lists, clinic data, etc; and combination of pedigree information and genotype information into the format needed for linkage analysis packages.