Catalog

Lethal osteosclerotic bone dysplasia

No MMS code

Link to WHO Definition

Lethal osteosclerotic bone dysplasia – http://id.who.int/icd/entity/1306493470

Lethal osteosclerotic bone dysplasia is defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. The cranial features are a wide anterior fontanelle, expressed proptosis with everted lower eyelids, severely depressed nasal bridge, small nose, low-set ears, and severe midface hypoplasia leading to choanal atresia. The mouth is usually triangular, gum hypertrophy is expressed, and there may be natal teeth and cleft palate/uvula.