has material basis in germline mutation in LTBP3 brachyolmia-amelogenesis imperfecta syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/dental_anomalies_and_short_stature UMLS:C1832594 platyspondyly-amelogenesis imperfecta syndrome Verloes-Bourguignon syndrome SCTID:716195006 skeletal dysplasia with amelogenesis imperfecta and platyspondyly MONDO:0011018 Verloes Bourguignon syndrome GARD:0005478 tooth agenesis, selective, 6 OMIM:601216 Orphanet:2899 MEDGEN:318659 platyspondyly with amelogenesis imperfecta amelogenesis imperfecta and platyspondyly 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. DASS DOID:0090143 dental anomalies and short stature spondyloepiphyseal dysplasia