Pyknoachondrogenesis (Q106920)
From determinar.ia.br - Determine suas informações
Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis with extreme shortening of the limbs and hydrops fetalis prenatally, or a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism at birth.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_588435239 |
||
| English | Pyknoachondrogenesis |
Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis with extreme shortening of the limbs and hydrops fetalis prenatally, or a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism at birth. |
Statements
CID11:ID_588435239
0 references
dki-india-ID_588435239
0 references
Concluído
0 references
16 August 2026
0 references
