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Tibial hypo-/aplasia with preaxial syn- and polydactyly

โœ Scribed by H. J. Andersen; A. K. Hansen

Book ID
104779530
Publisher
Springer
Year
1990
Tongue
English
Weight
268 KB
Volume
109
Category
Article
ISSN
1434-3916

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โœฆ Synopsis

Tibial hypo-/aplasia with preaxial syn-and polydactyly is a rare autosomal dominant condition. Fewer than 20 cases have so far been described. One is presented here.

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Holoprosencephaly and preaxial polydacty
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Holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain and midface in humans. The aetiology of HPE is highly heterogeneous and includes both environmental and genetic factors. Here we report on a boy with mild mental retardation, lobar HPE, epilepsy, mild pyramidal s