Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.
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.
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
J Román
JR
Corona-Rivera
Valérie
V
Cormier-Daire
Nathalie
N
Dagoneau
Pedro
P
Coello-Ramírez
Eloy
E
López-Marure
Carmen O
CO
Romo-Huerta
Héctor
H
Silva-Baez
Liuba M
LM
Aguirre-Salas
María Inés
MI
Estrada-Solorio
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D003680:Deglutition Disorders / Q000151:congenital / Q000401:mortality*; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007037:Hypothyroidism / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D009017:Morbidity; D009960:Oropharynx / Q000503:physiopathology*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D054969:Primary Dysautonomias / Q000151:congenital; D011859:Radiography; D012131:Respiratory Insufficiency / Q000235:genetics; D035781:Siblings; D013577:Syndrome; D013961:Thyroid Gland / Q000002:abnormalities