Brachyolmie - Amelogenesis imperfecta

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Krankheitsbeschreibung

Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.
Quelle: Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1997. Available on http://www.orpha.net. Accessed 16.11.2015.

Orofaziale Manifestation

Zahnanomalie (Amelogenesis imperfecta)

Literatur

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