Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.
Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (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 I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. 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.
Sillence
D
D
Medical Genetics Unit, Royal Alexandra Hospital for Children, Camperdown, New South Wales, Australia.
Kozlowski
K
K
Bar-ziv
J
J
Fuhrumann-Rieger
A
A
Fuhrmann
W
W
Pascu
F
F
D001842:Bone and Bones / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D010641:Phenotype; D011859:Radiography; D012737:Sex Factors; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics