Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father.
In this short report we present further evidence for the autosomal dominant pattern of inheritance with variable expressivity in the Oculo-Dento-Digital Dysplasia (OMIM * 164200). The full clinical manifestation of the syndrome was observed in a 9.5-year-old girl with contrasting mild manifestation (complete cutaneous syndactyly of fingers IV-V--type III syndactyly) in her father.
Ioan
D M
DM
Department of Medical Genetics, Institute of Endocrinology, Bucharest, Roumania.
Dagomiz
D
D
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D005124:Eye Abnormalities / Q000473:pathology*; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013576:Syndactyly / Q000473:pathology*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*