Brachyolmia-amelogenesis imperfecta syndrome

MONDO:0011018

An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.

Also known as: DASS, Verloes-Bourguignon syndrome, dental anomalies and short stature, platyspondyly with amelogenesis imperfecta, platyspondyly-amelogenesis imperfecta syndrome, tooth agenesis, selective, 6, Verloes Bourguignon syndrome, amelogenesis imperfecta and platyspondyly

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