Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Abstract:

: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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Sillence D,Kozlowski K,Bar-ziv J,Fuhrumann-Rieger A,Fuhrmann W,Pascu F

doi

10.1007/BF02388282

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

474-80

issue

6

eissn

0301-0449

issn

1432-1998

journal_volume

17

pub_type

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