[Brachyolmia at autosomal recessive transmission].
作者信息
Soua H, Sassi N, Karboul L, Ayadi A, Boussoffara R, Belkhir Y, Lengliz N, Hamza H, Sfar M T, Maroteaux P
机构信息
Service de pédiatrie, hôpital Tahar Sfar, Mahdia, Tunisie.
出版信息
Arch Pediatr. 1994 May;1(5):505-7.
BACKGROUND
Brachyolmia is a form of spondylodysplasia; sufferers have a short stature limited to the trunk that is recessively inherited. There may be other minor abnormalities in some cases. CASE REPORTs. Four brothers, born to consanguineous normal parents, developed short stature and scoliosis that were only identified after the age of 5 years (from 8 to 14 years). The three oldest patients had facial anomalies with flattened mid-face and enlarged lips. X-rays showed scoliosis, universal platyspondyly, irregular iliac crests and short, enlarged femoral necks.
CONCLUSION
Evidence of abnormalities in other areas than the spine confirms the heterogeneity for the disease.
Zotero 插件