Achondrogenesis type 1B (Q54556): 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 | ||
Acondrogenesia tipo 1B, uma forma de acondrogenesia, é uma displasia esquelética letal rara caracterizada por micromelia grave com dedos das mãos e dos pés muito curtos, uma face plana, um pescoço curto, tecido mole espessado ao redor do pescoço, hipoplasia do tórax, abdômen protuberante, um aparência fetal hidrópica e características histológicas distintas da cartilagem. | |||
| description / en | description / en | ||
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. | |||
Revision as of 02:10, 14 August 2026
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1740585991 |
||
| English | Achondrogenesis type 1B |
Achondrogenesis type 1B, a form of achondrogenesis, is a rare lethal skeletal dysplasia characterised by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. |
