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Brachyolmia-amelogenesis imperfecta syndrome

Disease Export to PDF
Name:
Brachyolmia-amelogenesis imperfecta syndrome
Description:
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.
ORPHAcode:
2899
Synonyms:
Platyspondyly-amelogenesis imperfecta syndrome
Verloes-Bourguignon syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
LTBP3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14