Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
Leal
Gabriela F
GF
Serviço de Genética Médica, Instituto Materno-Infantil Prof. Fernando Figueira, Recife-PE, Brazil. gabferraz@gmail.com
Silva
Elias O
EO
Duarte
Andréa R
AR
Campos
João F
JF
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D016569:Blepharophimosis / Q000473:pathology; D001763:Blepharoptosis / Q000473:pathology; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D034381:Hearing Loss / Q000473:pathology*; D006801:Humans; D008297:Male; D011884:Radius / Q000473:pathology; D035781:Siblings; D013577:Syndrome; D013580:Synostosis / Q000473:pathology; D014457:Ulna / Q000473:pathology; D014472:Umbilicus / Q000473:pathology