Pyknoachondrogenesis (Q106920): Difference between revisions
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A picnoacondrogênese é uma osteocondrodisplasia letal caracterizada pela presença de osteosclerose grave generalizada, encurtamento extremo dos membros e hidropsia fetal pré-natais, ou por macrocefalia, edema palpebral, achatamento nasal, baixa implantação das orelhas, pescoço curto, um tronco curto e largo, o abdome proeminente e nanismo micromélico grave ao nascimento. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
