Published October 1987 | Version v1
Journal article Metadata-only

Perinatally lethal short rib-polydactyly syndromes. Pt. 1

Creators

  • 1. Royal Alexandra Hospital for Children, Camperdown (Australia). Medical Genetics Unit
  • 2. Royal Alexandra Hospital for Children, Camperdown (Australia). Dept. of Radiology
  • 3. Hasharon Hospital, Petah-Tiqva (Israel). Dept. of Radiology
  • 4. Giessen Univ. (Germany, F.R.). Inst. fuer Humangenetik
  • 5. Giessen Univ. (Germany, F.R.). Zentrum fuer Pathologie

Description

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type 3 (Verma-Naumoff) and 2 with SRP tye 2 (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type 1 (Saldino-Noonan) is in marked contrast to these findings in SRP type 3. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects. (orig.)

Additional details

Additional titles

Subtitle (English)
Variability in known syndromes

Publishing Information

Journal Title
Pediatr. Radiol.
Journal Volume
17
Journal Issue
6
Series
Pediatr. Radiol.
Journal Page Range
474-480
ISSN
0301-0449
CODEN
PDRYA

INIS

Country of Publication
Germany
Country of Input or Organization
Germany
INIS RN
19001684
Subject category
S62: RADIOLOGY AND NUCLEAR MEDICINE;
Descriptors DEI
BIOMEDICAL RADIOGRAPHY; CONGENITAL MALFORMATIONS; DIAGNOSIS; HEREDITARY DISEASES; IMAGES; INFANTS; MORTALITY; PATIENTS; SKELETON; X-RAY RADIOGRAPHY
Descriptors DEC
ANIMALS; BODY; CHILDREN; DIAGNOSTIC TECHNIQUES; DISEASES; MALFORMATIONS; MAMMALS; MAN; MEDICINE; ORGANS; PATHOLOGICAL CHANGES; PRIMATES; VERTEBRATES