Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.
Schrander-Stumpel
C T
CT
Department of Clinical Genetics, Academic hospital Maastricht, The Netherlands.
De Groot-Wijnands
J B
JB
De Die-Smulders
C
C
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003744:Dental Enamel Hypoplasia / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008850:Microphthalmos / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D013576:Syndactyly / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome