Total: 1 |
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PMID (PMCID) | ||
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9880208 |
MALE | |
Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication. | ||
Lukusa T, Fryns JP. Am J Med Genet. 1998;80(5):454-8. |
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The syndrome is characterized by the presence of facial, oral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant; 2) lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with fetal pads, broad thumbs, and halluces. |