title: Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts.
abstract: 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.
authors.affiliation: Division of Genetics and Teratology, Department of Pediatrics, University of Istanbul, Istanbul, Turkey. beyhantuysuz@yahoo.com
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tüysüz
authors.forename: Cenap
authors.initials: C
authors.lastname: Zeybek
authors.forename: Gazi
authors.initials: G
authors.lastname: Zorer
authors.forename: Ozlem
authors.initials: O
authors.lastname: Sipahi
authors.forename: Savas
authors.initials: S
authors.lastname: Ungür
mesh_terms: 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