Article
Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in St�ve-Wiedemann syndrome
Fecha
2009Registro en:
10.1016/j.ejmg.2009.04.001
Autor
Corona-Rivera, J.R.
Cormier-Daire, V.
Dagoneau, N.
Coello-Ramirez, P.
Lopez-Marure, E.
Romo-Huerta, C.O.
Silva-Baez, H.
Aguirre-Salas, L.M.
Estrada-Solorio, M.I.
Institución
Resumen
St�ve-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. � 2009 Elsevier Masson SAS. All rights reserved.