Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
We describe a 33-day-old boy who had short and thick tibiae, symmetrical oligosyndactyly of the hands, and distinctive face. The patient was considered as a case of Nievergelt syndrome, a rare form of mesomelic dysplasia. Besides the characteristic mesomelic limb anomalies of Nievergelt syndrome, this patient exhibited two additional features: agenesis of the cerebellar vermis and cataracts, both of which have not been previously reported.
Tüysüz
Beyhan
B
Division of Genetics and Teratology, Department of Pediatrics, University of Istanbul, Istanbul, Turkey. beyhantuysuz@yahoo.com
Zeybek
Cenap
C
Zorer
Gazi
G
Sipahi
Ozlem
O
Ungür
Savas
S
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002386:Cataract / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology*; D013577:Syndrome