The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family
Ioan, D.M.; Dumitriu, L.; Belengeariu, V.; Fryns, J.P.
Genetic Counseling 8(2): 87-90
1997
ISSN/ISBN: 1015-8146 PMID: 9219005 Document Number: 472957
The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family: We report two siblings - a 5 1/2 year old female child and her 41/2 year old brother, both presenting the classical clinical findings of oculo-dento-digital dysplasia (ODD). 1. Digital anomalies: bilateral complete cutaneous syndactyly of fingers IV-V (III-IV-V at the left hand of the boy) and camptodactyly IV. 2. Facial and ocular anomalies: microphthalmos-epicanthal folds, small midfacies, thin nose with hypoplastic alae nasi and small nares. 3. Dental anomalies with partial dental agenesis and enamel hypoplasia. Examination of the parents showed a bilateral cutaneous syndactyly IV-V in the father as the sole partial manifestation of ODD. The findings in the present family confirm the autosomal dominant inheritance of ODD with great variability in clinical expression. Moreover, the facial morphology (thin, hypoplastic nose) observed in several ODD patients suggests nosological overlap with the Hallerman-Streiff syndrome and could indicate that both syndromes are variable expressions of a contiguous gene deletion syndrome.