Neu-Laxova syndrome (Q88650): Difference between revisions
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Latest revision as of 14:58, 15 August 2026
Neu-Laxova syndrome is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system (CNS) defects are present: lissencephaly type III, hypoplastic cerebellum and brainstem, enlarged ventricles, and sometimes intracerebral calcifications, Dandy-Walker anomaly or agenesis of the corpus callosum.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_893358230 |
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| English | Neu-Laxova syndrome |
Neu-Laxova syndrome is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system (CNS) defects are present: lissencephaly type III, hypoplastic cerebellum and brainstem, enlarged ventricles, and sometimes intracerebral calcifications, Dandy-Walker anomaly or agenesis of the corpus callosum. |
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CID11:ID_893358230
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dki-india-ID_893358230
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Concluído
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13 August 2026
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