Phenotype Short stature, coarse and dysmorphic facies, bowing of the long bones, vertebral anomalies Facial features include hypertelorism, bushy eyebrows, micrognathia, small
[iofbonehealth.org]
[…] valve 0001650 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cleft
[rarediseases.info.nih.gov]
/ diaphyses / long bones - Broad nasal root - Cataract / lens opacification - Chronic skin infection / ulcerations / ulcers / cancrum - Cleft palate without cleft lip / submucosal
[csbg.cnb.csic.es]