[Short rib-polydactyly syndrome of the Saldino-Noonan type in 2 siblings].
Two stillborn female siblings with short rib-polydactyly syndrome type I (Saldino-Noonan) are described. Besides the characteristic narrow thorax, the pronounced micromelia and a severe dysplasia of the skeleton, a series of organic malformations have been found, in particular in the gastro-intestinal tract and in the urogenital system. The clinical, radiological and anatomo-pathological differences between the four presently known types of the SRP syndrome are described. The importance of postmortem X-ray diagnosis and of genetic counseling (autosomal recessive transmission) is emphasized.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D009634:Noonan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D013902:Radiography, Thoracic; D012272:Ribs / Q000002:abnormalities*
Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan bei zwei Geschwistern.