brachyolmia-amelogenesis imperfecta syndrome

A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygo

A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.

Signs and symptoms

• Short stature
• Oligodontia
• Scoliosis
• Delayed skeletal maturation
• Microdontia
• Amelogenesis imperfecta
• Narrow vertebral interpedicular distance
• Herniation of intervertebral nuclei
• Platyspondyly
• Hypertrichosis

Also known as: DASS; STHAG6; dental anomalies and short stature; platyspondyly with amelogenesis imperfecta; selective tooth agenesis 5