bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome
Authors: Stratton Robert F. , Dobyns William B. , Greenberg Frank , DeSana Jeanne B. , Moore Charleen , Fidone George , Runge Gretchen H. , Feldman Paula , Sekhon Gurbax S. , Pauli Richard M. , Ledbetter David H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractRecently, a new clinically recognizable syndrome resulting from a small interstitial deletion of 17p [del(17)(p11.2p11.2)] was described in ten unrelated patients. We have identified six additional patients with similar cytogenetic and phenotypic abnormalities. Consistent clinical manifestations include 1) brachycephaly with a broad face and nasal bridge, 2) flat midface, 3) short, broad hands, and 4) mental retardation associated with hyperactivity and often self‐destructive behavior. The craniofacial and hand anomalies are reminiscent of several craniosynostosis syndromes. Most patients also had growth deficiency and several other (more variable) congenital malformations. Chromosome studies with special attention to 17 should be performed in any patient with a similar phenotype.
Acromicric dysplasia
Authors: Maroteaux Pierre , Stanescu Ritta , Stanescu Victor , Rappaport Raphaël , Reynolds James F. 
Published: June 2005

AbstractWe describe a new type of bone dysplasia, the „acromicric dysplasia”︁, based on the study of six patients. This dysplasia is characterized clinically by mild facial anomalies, markedly shortened hands and feet, and growth retardation that is severe in most of cases.Roentgenograms of the hands are characteristic: the metacarpals and the phalanges are short and stubby, the proximal portion of the last four metacarpals are slightly pointed with an external notch on the 2nd metacarpal and an internal notch on the 5th metacarpal, similar to pseudoepiphyses. The shape of the epiphysis and the metaphysis of the long bones is almost normal, except for a slight deformation of the femoral heads in some patients. No signs of visceral storage were found, which rules out geleophysic dwarfism. The histological, histochemical, and electron microscopical examination of the growth cartilage in two cases showed similar lesions: disorganization of the growth zone with islands of cells, some of them degenerated; abnormal organization of collagen forming thick rims around the cells and wide fibers in the interterritorial matrix; large accumulation of glycogen in most chondrocytes.Both sexes are affected; all patients are isolated cases from normal families.
Problems in detecting etiological heterogeneity in genetic disease illustrated with retinitis pigmentosa
Authors: Beaty T. H. , Boughman J. A. , Reynolds James F. 
Published: June 2005

AbstractSimulated data were generated under four etiologic mechanisms for each of 20 different pedigree structures drawn from a study of families ascertained through a proband with retinitis pigmentosa. These simulated data were then used to identify subgroups of pedigrees which best supported each of three genetic mechanisms (autosomal dominant, autosomal recessive, X‐linked recessive with 10% penetrance of disease in heterozygous females) and a non‐genetic, sporadic mechanism. Results of these studies show that pedigrees identified as supporting one genetic model in a “model choice” approach tend to be etiologically homogenous, but are not truly representative of all the phenotypic combinations possible under that mechanism. The problem of etiologic heterogeneity is most acute when dealing with pedigrees less than size 10. Pedigrees lumped under a non‐genetic, sporadic mechanism are extremely heterogeneous and studies of the natural history of diseases where both genetic and non‐genetic mechanisms may be operating (such as with retinitis pigmentosa) should avoid using this group of largely simplex pedigrees.
Maternal hartnup disorder
Authors: Mahon Barbara E. , Levy Harvey L. , Opitz John M. 
Published: June 2005

AbstractWe describe childbearing in two unrelated women with Hartnup disorder, an inborn error of neutral amino acid transport. Two living, unaffected offspring born after untreated and uneventful pregnancies, one from each woman, have had normal growth and development. The older one had an IQ of 92 at 4 years while the younger one at 4 months had a Development Quotient of 107 on the Mental Scale and 102 on the Motor Scale. A third offspring had a neural tube defect complicated by hydrocephalus and died at 3 months. This mother had a family history of major congenital anomalies. We think that this experience supports the view that Hartnup disorder in the mother, unlike phenylketonuria, does not have an adverse effect on the fetus. The presence of normal ratios of the amino acid concentrations between maternal and umbilical veins in one mother also suggests that placental transport of free amino acids, unlike renal transport, may not be reduced in maternal Hartnup disorder.
Chromosomal mosaicism in the Killian/Teschler‐Nicola syndrome
Authors: Raffel Leslie J. , Mohandas T. , Rimoin David L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report a patient with the Killian/Teschler‐Nicola/Pallister mosaic syndrome in association with a cytogenetic abnormality. This patient is the first reported to have lymphocyte mosaicism for an isochromosome of 12p. All other patients with the Killian syndrome have had normal lymphocyte karyotypes, although mosaicism for a similar isochromosome of 12p has been reported in the fibroblasts of most patients with the Killian syndrome.
Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia
Authors: Witt David R. , Hayden Michael R. , Holbrook Karen A. , Dale Beverly A. , Baldwin Virginia J. , Taylor Glenn P. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA brother and sister from consecutive pregnancies had rigid and tightly adherent skin in association with generalized contractures, unusual facies, pulmonary hypoplasia, an abnormal placenta, and a short umbilical cord. Both died shortly after birth. Pathologic examination of the skin by light and electron microscopy showed structural abnormalities of the epidermis, dermis, and subcutaneous fat. An abnormal pattern of keratin proteins was determined biochemically using extracted epidermal proteins. Autopsy showed a normal spinal cord and muscle histology. It is postulated that the defective skin severely restricted movement and secondarily led to the other abnormalities. Familial occurrence is most consistent with autosomal recessive transmission. These patients and the primary skin defect are discussed within the framework of the Fetal Akinesia or Hypokinesia Deformation Sequence.
SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma
Authors: Parry Dilys M. , Mulvihill John J. , Tsai Shien , Kaiser‐Kupfer Muriel I. , Cowan Janet M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo middle age sisters had most manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both patients and malignant melanoma in the proposita. Cultured lymphocytes from both patients, and skin fibroblasts, Esptein Barr virus‐transformed lymphocytes, and tumor cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe Roberts syndrome.Extensive overlap of the phenotypes of the sisters and 15 other patients with either syndrome and PCS confirms that these are either allelic conditions or the same disease—designated Roberts‐SC phocomelia syndrome. The role of PCS in the syndrome(s) remains uncertain since some patients with the characteristic clinical phenotypes are reported to lack it.
Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter
Authors: Hamm Henning , Happle Rudolf , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractInflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease with characteristic clinical and histological changes. The approximately 100 cases so far reported include only one familial occurrence involving a woman and her nephew. We report the occurrence of typical ILVEN in a 47‐year‐old mother and her 17‐year‐old daughter. So far, no clear‐cut genetic interpretation of this observation can be given. Apart from coincidence, various genetic explanations are considered, including X‐linked inheritance with extreme lyonization.
Branchio‐oto‐renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred
Authors: Heimler Audrey , Lieber Ernest , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe family on which this report is based is of interest because it contains individuals with 1) the branchio‐oto‐renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; 2) only branchial and ear anomalies; and 3) apparent nonpenetrance of the syndrome.This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidneys.
De la chapelle dysplasia
Authors: Whitley Chester B. , Burke Barbara A. , Granroth Gustav , Gorlin Robert J. , Reynolds James F. 
Published: June 2005

AbstractSince the description by de la Chapelle and colleagues of two sibs with a unique skeletal dysplasia, two additional cases have occurred, one in the original Finnish family and one sporadic patient born to unrelated parents of Belgian descent. The original Finnish family has later had a fourth child, a normal daughter who was found to be unaffected upon radiographic examination in the 19th week of gestation. These additional findings are compatible with recessive inheritance. Physical features common to these four patients include cleft palate, small thorax, moderately severe micromelia with small hands, and equinovarus deformity. In each case, the ulnae and fibulae were reduced to an almost triangular osseous remnant. Other long bones were short and bowed. Neonatal death occurred in all cases and may be attributed to a consistent triad of respiratory tract malformations: laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. Clinical and radiographic features are sufficiently unique to distinguish de la Chapelle dysplasia from other disorders in the spectrum of neonatal lethal osteochondrodysplasias. Lacunar halos were identified as a distinctive histopathologic feature also observed in achondrogenesis but not in several other skeletal dysplasias.
Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases
Authors: Roels Frank , Cornelis Alfons , Poll‐The Bwee Tien , Aubourg Patrick , Ogier Helène , Scotto Jacques , Saudubray Jean‐Marie , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by electron microscopy in 3 patients; in the 4th patient we observed organelles of peculiar size and structure and with minimal catalase activity. Light microscopy also showed birefringent macrophages containing P.A.S.‐positive material; they were abundant in the 3 older children, and rare in the youngest (8 months). Peroxisomes and birefringent macrophages were absent in 2 patients with the cerebrohepatorenal syndrome of Zellweger. The simultaneous presence of these unique light microscopical characteristics may be of diagnostic value.
Maroteaux‐Lamy syndrome in a large consanguineous kindred: Biochemical and immunological studies
Authors: Black Susan H. , Pelias Mary Z. , Miller James B. , Blitzer Miriam G. , Shapira Emmanuel , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a large consanguineous German‐Acadian (“Cajun”) family from a rural area in Louisiana in which 11 persons in two generations had the Maroteaux‐Lamy syndrome. The mutant arylsulfatase B enzyme in this family was similar to the mutant enzyme in previously studied families in its cross‐reactivity with specific antibodies to the enzyme, but it differed in both its electrophoretic mobility and its residual enzymatic activity. These findings indicate that a different mutational event leading to Maroteaux‐Lamy syndrome occurred in this family.
Familial lipoid adrenal hyperplasia: Genetic marker data and an approach to prenatal diagnosis
Authors: Frydman Moshe , Kauschansky Arieh , Zamir Rina , Bonné‐Tamir Batsheva , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSome of the anatomic endocrine, and genetic aspects of lipoid adrenal hyperplasia were studied in an inbred Israeli‐Arab family with two affected sibs. One sib, a genetic female, presented with acute Addisonian crisis. Endocrine studies documented elevated ACTH levels and no detectable steroids of gonadal or adrenal origin. The other patient, a male pseudo‐hermaphrodite, was found at autopsy to have typical lipoid adrenal hyperplasia and ectopic adrenal tissue adjacent to an intra‐abdominal testicle. Complete vagina, uterus, and fallopian tubes were present in addition to the Wolffian structures. This unique observation supports the view that steroids may be necessary for Müllerian inhibitory factor to induce regression of Müllerian structures. The segregation of 27 autosomal markers was studied in one affected and five unaffected sibs. Genetic linkage to HLA, MNS, and GPT is unlikely. In addition, the affected sib is heterozygote for a haplotype of chromosome 1 which includes the Rh, Fy, PGM‐1 systems. Determination of fetal gender by the combined use of ultrasonography and amniocentesis is suggested for prenatal diagnosis and improved risk counselling.
Clinical anthropometry and medical genetics: A compilation of body measurements in genetic and congenital disorders
Authors: Meaney F. John , Farrer Lindsay A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAnthropometry has become an important tool in the study of genetic conditions, particularly as a diagnostic aid for the clinical geneticist. However, many practicing physicians do not do anthropometry of patients for several reasons, such as: appropriate measurements in a given situation are unknown; normative reference data are unavailable; or analysis and interpretation of the data are confusing. In this review we present an annotated compilation of informative measurements for hereditary and congenital disorders and a guide to normative anthropometric data of use in evaluation and diagnosis of such disorders. Further development of multivariate approaches will enhance the application of anthropometry as a means of identifying and classifying a syndrome and documenting the natural history of many disorders. Continued cooperation among physicians, geneticists, and anthropologists for the collection and assessment of patient and normative data is essential if these goals are to be realized.
Risk for trisomy 21 in offspring of individuals who have relatives with trisomy 21
Authors: Abuelo Dianne , Barsel‐Bowers Gail , Busch Wendy , Pueschel Siegfried , Pezzullo John , Reynolds James F. 
Published: June 2005

AbstractThis study was performed to determine if sibs and other relatives of individuals with trisomy 21 are themselves at increased risk for having offspring with trisomy 21. The results suggest that the reproductive risk to these relatives is not increased beyond the risk to the general population.
Dermatoglyphics and creases in patients with neurofibromatosis von recklinghausen
Authors: Vormittag Walter , Weninger Margarete , Raff Manfred , Konrad Klaus , Scheiber Viktor , Neri Giovanni 
Published: June 2005

AbstractFingerprint and palmar dermatoglyphics and creases were investigated in 60 patients (20 males and 40 females) with generalized neurofibromatosis. Like previous investigators, we found a significantly increased frequency of digital central pocket patterns. Furthermore, affected males and females had an increased frequency of monocentric whorls (P = 0.0037), higher quantitative values on digit II of both hands (P = 0.04), more often a reduction of main line C (P < 0.05) with decreased frequencies of patterns in the 3rd and 4th interdigital area of the left hand (P < 0.05), and a lower ab ridge count (males P < 0.005; females P < 0.001) than control individuals. On the right hand of males the frequency of high endings (5′ or 5″) of line A was decreased (P < 0.05). A significantly increased frequency of Sf1 (Sydney line) was found in female patients (P < 0.001). Male and female patients often showed a high number of secondary creases (P < 0.001).
Probabilistic assessment of the degree of antigen sharing in couples with impaired reproductive performance
Authors: Dawson Deborah V. , Ciftan Elinor A. , Reynolds James F. 
Published: June 2005

AbstractIncreased histocompatibility antigen sharing has been reported in couples experiencing recurrent infertility problems. Mathematical expressions describing the probability distribution of the number of antigens shared by randomly mating couples are derived for a single locus, two linked loci, and multiple independent systems. These theoretical frequencies are applied in concert with conventional statistical procedures to evaluate hypotheses concerning antigen distributions. Extensions for simultaneous consideration of other genetic systems are discussed.
Clinical application of DNA analysis in a family with OTC deficiency
Authors: McClead Richard E. , Rozen Rima , Fox Joyce , Rosenberg Leon , Menke James , Bickers Rex , Morrow Grant , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe the clinical application of DNA restriction fragment analysis to the genetic evaluation of a family with a child deficient in ornithine transcarbamylase (OTC). The results of protein loading studies and the interpretation of the DNA haplotype profiles for the human OTC gene are reported. DNA restriction fragment analysis may be a reliable technique for the prenatal diagnosis of OTC deficiency and identification of obligate carriers of this gene.
Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: Delineation of an autosomal recessive subtype of essential osteolysis
Authors: Petit Paul , Fryns Jean‐Pierre , Reynolds James F. 
Published: June 2005

AbstractWe describe the concurrence of severe distal Osteolysis, mental retardation, short stature, and characteristic facial appearance with maxillary hypoplasia and relative exophthalmos in two adult sibs, a 57‐year‐old woman and her deceased brother. Apparently they represent a distinct, autosomal recessive entity in the group of the so‐called essential osteolyses. Furthermore, this observation confirms that the facial changes that may occur in patients with essential osteolysis, ie, maxillary hypoplasia and relative exophthalmos, may be present in all types of osteolysis, independent of their localisation or inheritance.
Animal Model: Genetic Analysis of an Inherited Deficiency of the Third Component of Complement in Brittany Spaniel Dogs
Authors: Johnson John P. , McLean Robert H. , Cork Linda C. , Winkelstein Jerry A. , Prieur David J. 
Published: June 2005

AbstractGenetically determined C3 deficiency in Brittany spaniel dogs shares a number of biochemical and clinical characteristics with the human disorder. In humans, the gene for C3 deficiency is a null gene that is allelic to the structural gene tor C3 and is not linked to the major histocompatibility locus. The current study used allotype analysis of canine C3 in order to demonstrate that the gene for C3 deficiency in these dogs is also a null gene allelic to the structural gene for C3. In addition, preliminary pedigree analysis suggests that the gene for canine C3 deficiency is apparently not closely linked to the major histocompatibility complex of the dog. Thus, it appears that C3 deficiency in Brittany spaniel dogs not only shares biochemical and clinical features with C3 deficiency in humans, but also shares some genetic characteristics with the human disorder.
Magnetic resonance spectroscopy of normal and diseased muscles
Authors: Chance B. , Younkin D. P. , Kelley R. , Bank W. J. , Berkowitz H. D. , Argov Z. , Donlon E. , Boden B. , McCully K. , Buist N. M. R. , Kennaway N. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPhosphorus magnetic resonance spectroscopy (P MRS) affords and innovative approach to the study of the oxidative enzyme content of normal and diseased muscles. Examples of the evaluation of the enzyme content of normal muscles by an exercise protoocol are provided. The protocol affords a hyperbolic work/cost profile, the Vmax of which is calculated by the reciprocal plots giving the enzyme content and the “effective Michaelis constant” with an evaluation of the resting metabolism. This steady state protocol clearly illustrates enzyme adaptation, on the one hand, and tissue atrophy particularly in the case of tissue injury, Duchenne's dystrophy, and genetic deletion of specific enzymes, on the other hand. The method is rapid, safe, and affords a quantitative evaluation of the disease process and possibilities for following appropriate therapies. So far, approx 1000 examinations or normal and diseased human limbs have been carried out in our laboratory in over the past four years.
The opitz syndrome: A new designation for the clinically indistinguishable BBB and G syndromes
Authors: Cappa M. , Borrelli P. , Marini R. , Neri G. 
Published: June 2005

AbstractThe BBB and G syndromes are multiple congenital anomaly (MCA) syndromes characterized by a developmental defect of the midline field. Prominent clinical manifestations are hypertelorism and, in males, hypospadias. Transmission is most likely autosomal dominant in both syndromes. Examination of two new cases and scrutiny of the literature led us to conclude that there are no discriminating qualitative differences between the two conditions. Therefore we propose that they both be designated by the common term “Opitz syndrome”.
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes
Authors: Renlund Martin , Aula Pertti , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSalla disease is an autosomal recessive lysosomal storage disease relatively common in the Finnish population. The main manifestations of more than 70 patients detected to date are severe psychomotor retardation and ataxia of early onset. Intracellular free N‐acetylneuraminic acid (sialic acid) is increased 10–20‐fold and localized in the lysosomes. Four pregnancies at risk were monitored by quantitation of free and total sialic acid in amniocytes and supernatant amniotic fluid by high‐performance liquid chromatography. In 3 children results were normal. Free sialic acid content of the amniocytes from one affected child was 2.6 nmol/mg protein, which was approxi‐mately 5 times higher than that of the 3 unaffected children (0.3 to 0.8) and 14 control samples (0.3 to 0.9). The ratio of free/total sialic acid of the amniocytes also clearly distinguished the affected pregnancy (13.8%) from the unaffected (2.3–4.8%) and control individuals (1.8–5.3%).This represents the first successful prenatal identification of a patient with Salla disease and indicates that both free sialic acid and free/total sialic acid ratio should be monitored in pregnancies at risk for the disease.