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.
Medical Genetics Unit, Royal Alexandra Hospital for Children, Camperdown, New South Wales, Australia.
D
D
Sillence
K
K
Kozlowski
J
J
Bar-ziv
A
A
Fuhrumann-Rieger
W
W
Fuhrmann
F
F
Pascu
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