[Severe malformations in atypical short-rib polydactyly syndrome (SRP-S)].
A case of atypical short-rib polydactyly syndrome (Majewski) with severe cerebral malformations (infundibular hamartoma, Dandy-Walker cyst, aplasia of cerebellar vermis, etc.) is reported. This seems to be the first case so far described in the literature.
Kuchelmeister
K
K
Institut für Neuropathologie, Universität Münster, BRD.
Garcia
H
H
D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000473:pathology; D006222:Hamartoma / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D012779:Short Rib-Polydactyly Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology*
Schwere zerebrale Missbildungen bei atypischem Short-Rib-Polydactyly-Syndrom (SRP-S).