Abstract
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.
MeSH terms
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Abnormalities, Multiple / classification
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Adult
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Dental Enamel Hypoplasia / classification
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Dental Enamel Hypoplasia / diagnosis
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Dental Enamel Hypoplasia / genetics*
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Face / abnormalities*
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Female
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Humans
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Infant
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Infant, Newborn
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Iris / abnormalities*
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Male
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Microphthalmos / classification
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Microphthalmos / diagnosis
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Microphthalmos / genetics*
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Middle Aged
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Phenotype
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Syndactyly / classification
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Syndactyly / diagnosis
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Syndactyly / genetics*
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Syndrome