Last update 01 Nov 2024

Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Basic Info

Synonyms
ANODONTIA-HYPOTRICHOSIS SYNDROME, Anodontia-Hypotrichosis Syndrome, BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM
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Introduction
This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.

Analysis

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