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Article

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

American journal of medical genetics. Part A - 1 Mar 2010

Leoni Chiara, Cesarini Laura, Dittoni Serena, Battaglia Domenica, Novelli Antonio, Bernardini Laura, Losurdo Anna, Vollono Catello, Testani Elisa, Della Marca Giacomo, Zampino Giuseppe

Abstract excerpt

We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20186811
DOI: 10.1002/ajmg.a.32700

Genes

SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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