Total: 1 |
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PMID (PMCID) | ||
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6250998 |
FEMALE | |
A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. | ||
Schinzel A. Helv Paediatr Acta. 1980;35(3):243-51. |
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Prominent findings included hidrotic ectodermal dysplasia with virtually complete absence of body hair, ichthyosiform hyperkeratosis of the skin over the lower legs, dysplasia of toenails; small hands and feet with with short fifth fingers and toes complete cutaneous syndactyly between toes 4 and 5; in X-rays, fusion of several vertebral bodies, humero-radial ankylosis, fusion between talus and navicular bone, lunate and triquetral, and proximal fusion between metacarpals 4 and 5; and luxation of the right femoral head. |