Lethal osteosclerotic bone dysplasia (Q98927): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Displasia óssea osteosclerótica letal é definida por osteosclerose generalizada com formação óssea periosteal, dismorfismo facial característico, anormalidades cerebrais incluindo calcificações intracerebrais e curso letal neonatal. As manifestações cranianas são uma fontanela anterior larga, proptose expressa com pálpebras inferiores evertidas, ponte nasal gravemente deprimida, nariz pequeno, orelhas de implantação baixa e hipoplasia grave do meio da face levando à atresia coanal. A boca é geralmente triangular, a hipertrofia gengival expressa e pode haver dentes ao nascimento e fenda de palato/úvula. | |||
| description / en | description / en | ||
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. | |||
Revision as of 15:34, 16 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1306493470 |
||
| English | Lethal osteosclerotic bone dysplasia |
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. |
