Achondrogenesis type II with polydactyly.
We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short-rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed.
Rittler
M
M
Sección Genética Médica, Hospital Maternoinfantil Ramón Sardá, Buenos Aires, Argentina.
Orioli
I M
IM
D000015:Abnormalities, Multiple / Q000235:genetics; D000130:Achondroplasia / Q000145:classification / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D007231:Infant, Newborn; D018191:Lymphangioma, Cystic / Q000235:genetics; D008297:Male; D017689:Polydactyly / Q000235:genetics*; D013577:Syndrome