摘要:

AbstractSimpson‐Golabi‐Behmel Syndrome (SGBS), an X‐linked encephalo‐tropho‐schisis syndrome described in fewer than a dozen families, is characterized by pre‐ and postnatal overgrowth, “coarse” face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded. © 1992

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440202

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractThe Simpson‐Golabi‐Behmel syndrome is an X‐linked condition characterized by pre‐ and postnatal overgrowth, “coarse” face, postaxial polydactyly, midline defects, and psycho‐motor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome. © 1992 W

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440203

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter→q11.21::q11.23→qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype‐phenotype correlations are still not possible for this region of chromosome 7. © 1992 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440204

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as β‐glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. β‐Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal. © 1992 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440205

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on a 20‐year‐old male with a β‐glucuronidase (GUSB) deficiency mucopoly‐saccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, herniae, corneal clouding, and neurological abnormalities were absent. Although he had Alder‐type granulations in his polymorpho‐nuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. Electron microscopic examination of skin and gingival biopsies, leukocytes, and cultured skin fibroblasts showed numerous single membrane‐limited vacuoles either empty or filled with fibrillogranular material; this last tissue did not contain metachromatic granules. Radiographs demonstrated a distinct spondyloepiphyseal dysplasia in which the most striking changes were confined to the thoracic spine (flattening and collapse in T7, T8 and T10 vertebral bodies) and to the femoral capital epiphyses (irregularities and fragmentation). The activity of GUSB in the patient's serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal. Immunoblot analysis showed very low levels of cross‐reactive material towards anti‐GUSB antiserum in the patient's leukocyte and fibroblast extracts. This patient was more severely affected in his skeleton than other described patients with an oligosymptomatic chronic form. This case broadens the clinical and biochemical picture associated with GUSB deficiency and may represent a new variant of the disease. © 1

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440206

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on a 4‐year‐old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well‐defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14) (pter→q24.3::q32.1→qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients. © 1992 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440207

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora–Ogur syndrome are discussed. © 1992 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440208

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on a female patient with bilateral acoustic neurinomas and other tumors in the central nervous system (neurofibromatosis type 2: NF2) and the constitutional translocation, t(4;22) (q12;q12.2). The precise identification of the translocation breakpoint (q12.2) on chromosome 22 implies the refined localization of a gene responsible for NF2, and would provide a clue to its molecular characterization and to the isolation of the gene. Chromosomes of a paraspinal neurinoma from the patient were also analyzed, and the same karyotype as seen in cultured peripheral lymphocytes was found. The patient's father was also a carrier of the translocation, but he had no clinical symptoms of NF2, nor did other relatives. Several explanations are offered for the different expression of the translocation between the patient and her father. © 1992 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440209

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractAcute teratogenic exposure of C57Bl/6J mouse embryos to ethanol in vivo results, within 12 hours of initial insult, in excessive cell death in selected cell populations. The patterns of excessive cell death observed following exposure of gestational day 8 embryos (late presomite—approximately 5 somite pair stages) vary somewhat temporospatially, but primarily involve the cell populations at the rim of the anterior neural plate. The cell death patterns appear to be pathogenically correlated with subsequently observed malformations including exencephaly (anencephaly), arhinencephaly, pituitary dysplasia, bilateral or unilateral cleft lip, maxillary hypoplasia, and median facial deficiencies and clefts. The association of these brain and facial malformations in this model, and perhaps in humans, may be accounted for by early insult to the selected cell populations identified in the current investigation. © 1992 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440210

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on the 12‐year development of a child with branchio‐oculo‐facial syndrome who was initially referred at age 5 months. Of note is his normal intelligence, regular class placement, hypernasal speech, and continued growth along the third centile. The importance of serial observations of patients with rare genetic disorders is emphasized. © 1992 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440211

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY