[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].
A syndrome which consists of growth retardation, mental deficiency, preaxial polydactyly and colobomatous anomalies was observed in two sibs and might have been transmitted by an autosomal recessive mutation. In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina. Polydactyly is unilateral. Similar observations have been quoted but no identical case seems to have been published.
Pfeiffer
R A
RA
Institut für Humangenetik und Anthropologie der Universität, Erlangen-Nürnberg.
Mayer
U
U
D000293:Adolescent; D000328:Adult; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities; D008297:Male; D009898:Optic Disk / Q000002:abnormalities; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*
Minderwuchs, Schwachsinn, präaxiale Polydaktylie vom Typ I mit kolobomatösen Missbildungen: ein neues Syndrom.