| Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome. | |
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MedLine Citation:
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PMID: 19371797 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Stüve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. We describe two female siblings with SWS born from consanguineous Gypsy parents. For a further delineation of SWS, we report hypothyroidism and ectopic thyroid as part of its phenotypic spectrum. Molecular study in the leukemia inhibitory factor receptor (LIFR) gene (OMIM *151 443) demonstrated the presence of a mutation. We observed that in one of our patients, oropharyngeal disruption in the swallowing process caused repetitive aspiration pneumonias, life-threatening events, and finally death. We emphasize that these features represent dysautonomic manifestations of SWS, and are probably related to pharyngoesophageal dyskinesia due to abnormal autonomic control of the anterior rami of cervical roots C1-C5. |
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Authors:
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J Román Corona-Rivera; Valérie Cormier-Daire; Nathalie Dagoneau; Pedro Coello-Ramírez; Eloy López-Marure; Carmen O Romo-Huerta; Héctor Silva-Baez; Liuba M Aguirre-Salas; María Inés Estrada-Solorio |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-04-14 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Jul-Aug |
Date Detail:
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Created Date: 2009-07-27 Completed Date: 2009-11-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 242-6 Citation Subset: IM |
Affiliation:
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Servicio de Genética, Hospital Civil de Guadalajara Dr. Juan I. Menchaca, and Instituto de Genética Humana Dr. Enrique Corona-Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico. rocorona@cucs.udg.mx |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology,
radiography* Child, Preschool Consanguinity Deglutition Disorders / congenital, mortality* Face / abnormalities Fatal Outcome Female Genes, Recessive Humans Hypothyroidism / physiopathology Infant Infant, Newborn Morbidity* Oropharynx / physiopathology* Osteochondrodysplasias / genetics, pathology, radiography* Primary Dysautonomias / congenital Respiratory Insufficiency / genetics Siblings Syndrome Thyroid Gland / abnormalities |
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