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Brachyolmia-amelogenesis imperfecta syndrome
rareAn 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.
- Identifiers
- MONDO:0011018 OMIM:601216Orphanet:2899
- Causal genes
- LTBP3
- Part of
- Spondyloepiphyseal dysplasia
- Also known as
- amelogenesis imperfecta and platyspondyly · DASS · dental anomalies and short stature · platyspondyly with amelogenesis imperfecta · platyspondyly-amelogenesis imperfecta syndrome
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