Lethal osteosclerotic bone dysplasia (Q98927): Difference between revisions

@@ 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.
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+August 2026Timestamp +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
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After 0
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++2026-08-15T00:00:00Z
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@@ Property / Collection date: 15 August 2026 / rank @@
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Latest revision as of 15:35, 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.