摘要:

AbstractTwo infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents. One infant died at age 2 months, and the other is currently 3.5 years old. A third pregnancy was terminated following ultrasonographic visualization of large echodense fetal kidneys and polydactyly. Although none had apparent brain anomalies, they were considered to represent the Meckel syndrome. Extinguished responses on electroretinography in our 3.5‐year‐old patient has led to the diagnosis of Bardet‐Biedl syndrome. This observation offers an opportunity to revisit the Bardet‐Biedl syndrome and provides further evidence that structural renal abnormalities are characteristic of the syndrome. We wish to alert the clinician to the diagnosis of Bardet‐Biedl syndrome in patients with infantile cystic kidney dysplasia. © Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440302

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri‐Costa and Guion‐Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance. © Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440303

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

年代:1992

数据来源: WILEY

摘要:

AbstractRecently published reports of 54 subjects with the amniotic band syndrome (ABS) were reviewed, paying particular attention to internal anomalies. Evidence from the internal anomalies suggests that in most cases reviewed, damage occurred in a definable time period, probably prior to 26 days postconception and before the establishment of effective embryonic circulation. Most defects are explicable in terms of interference with neuropore closure, malmigration of cephalic neural crest tissue, and damage to the mesonephros consistent with local interference of the graded expression of organizational genes resulting in a local defect in the organization of the embryo. © Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440304

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

年代:1992

数据来源: WILEY

摘要:

AbstractA rare vascular portohepatic anomaly was identified in a Down syndrome patient with a 47,XY,−2,+der(2), + der(21)t(2;21)(p13;q22.1) mat chromosomal complement. This vascular defect involves a direct communication between the right portal vein and the inferior vena cava (IVC). We discuss the possibility that this vascular defect is a rare manifestation in Down syndrome. Alternatively, the existence of these 2 rare events in the same patient raises the possibility that they are causally related. © Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440305

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

年代:1992

数据来源: WILEY

摘要:

AbstractAbsence of the kidneys and of the Müllerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Müllerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed. © Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440306

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity‐by‐descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (α2‐L‐fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome. © Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440307

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

年代:1992

数据来源: WILEY

摘要:

AbstractSling left pulmonary artery (SLPA) is often associated with tracheobronchial abnormalities, including bridging bronchus (BB). We report on 3 patients with SLPA: One patient had a narrow trachea, absent right upper lobe and right main bronchus, and BB. The second patient had a long and narrow trachea, with normal segmentation of bronchial tree, abnormal cerebral gyri, and minor facial abnormalities. The third patient, with a normal trachea and main bronchi with BB, had imperforate anus, hemivertebrae, and atrial septal defect (VATER association). Patients with SLPA, those with BB, or those with both SLPA and BB as well as multiple congenital anomalies represent a spectrum of anomalies. © Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440308

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

年代:1992

数据来源: WILEY

摘要:

AbstractHere we report on 12 affected members of a family with Bannayan‐Riley‐Ruvalcaba syndrome. We present clinical evidence of overlap between Bannayan‐Zonana syndrome. Riley‐Smith syndrome, and Ruvalcaba‐Myhre syndrome in this autosomal dominantly inherited condition. We expand the phenotypic spectrum to include Hashimoto thyroiditis, which occurred in 7 of our cases. Finally, we discuss the relationship between the syndrome and juvenile polyposis of infancy. © Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440309

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

年代:1992

数据来源: WILEY

摘要:

AbstractWe describe 4 sibs, 2 males and 2 females, affected with a new autosomal recessive MCA/MR syndrome of short stature, cerebral atrophy, epilepsy, skeletal abnormalities, and moderate to severe mental retardation. © Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440310

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

年代:1992

数据来源: WILEY

摘要:

AbstractAsymmetry can be either directional or fluctuating. Detection of abnormal amounts of asymmetry has important implications for clinical diagnosis, but measurement of subtle levels is very difficult. We describe a method and normative values for asymmetry quantification using hand radiographs. © Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320440311

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

年代:1992

数据来源: WILEY