Pyknoachondrogenesis (Q106920): Difference between revisions
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Revision as of 13:54, 17 August 2026
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 |
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| default for all languages | ID_588435239 |
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| 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. |
