Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 242-246

  Corona Rivera, J Román ^a,c   Cormier Daire, Valérie ^b   Dagoneau, Nathalie ^b   Coello Ramírez, Pedro ^a   López Marure, Eloy ^a   Romo Huerta, Carmen O ^a   Silva Baez, Héctor ^a   Aguirre Salas, Liuba M ^a   Estrada Solorio, María Inés ^a  

^a HOSPITAL CIVIL DE GUADALAJARA FRAY ANTONIO ALCALDE   (Mexico)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

Autonomic nervous system; Camptodactyly; Camptomelia; Dysatonomia; Leukoma; LIFR; Prenatal diagnosis; St ve Wiedemann syndrome; Swallowing dysfunction

Indexed keywords

CALCITRIOL; CALCIUM; LEUKEMIA INHIBITORY FACTOR RECEPTOR; THYROXINE; ZOLEDRONIC ACID;

AIRWAY OBSTRUCTION; APNEA; ARTICLE; ASPIRATION PNEUMONIA; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; BONE DENSITY; BONE DISEASE; BONE TURNOVER; CAMPTODACTYLY; COMPUTER ASSISTED TOMOGRAPHY; CONJUNCTIVITIS; CONSANGUINITY; CONTRACTURE; DEATH; DENSITOMETRY; DUAL ENERGY X RAY ABSORPTIOMETRY; DYSPHAGIA; ECHOCARDIOGRAPHY; ECTOPIC THYROID GLAND; ELECTROMYOGRAPHY; ESOPHAGOSTOMY; FEMALE; FEVER; GASTROSTOMY; GENE; GENE MUTATION; GENETIC COUNSELING; HEART LEFT VENTRICLE HYPERTROPHY; HEART MURMUR; HISTOLOGY; HUMAN; HYPERTHERMIA; HYPOTHYROIDISM; KERATITIS; LIFR GENE; LUNG INFECTION; MANOMETRY; MOLECULAR GENETICS; MORBIDITY; MUSCLE HYPOTONIA; OSTEOPENIA; OSTEOPOROSIS; PATENT FORAMEN OVALE; PHENOTYPE; PHYSICAL EXAMINATION; PTOSIS; PULMONARY ASPIRATION; PULMONARY HYPERTENSION; RADIODIAGNOSIS; RADIUS FRACTURE; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SCOLIOSIS; STUVE WIEDEMANN SYNDROME; SWEATING; THYROID FUNCTION TEST;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CONSANGUINITY; DEGLUTITION DISORDERS; FACE; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; HYPOTHYROIDISM; INFANT; INFANT, NEWBORN; MORBIDITY; OROPHARYNX; OSTEOCHONDRODYSPLASIAS; PRIMARY DYSAUTONOMIAS; RESPIRATORY INSUFFICIENCY; SIBLINGS; SYNDROME; THYROID GLAND;

EID: 67650639034     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.04.001     Document Type: Article

References (17)

1. Al-Gazali L.I., Ravenscroft A., Feng A., Shubbar A., Al-Saggaf A., and Haas D. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin. Dysmorphol. 12 (2003) 1-8
2. Chabrol B., Sigaudy S., Paquis V., Montfort M.F., Giudicelli H., Pellissier J.F., Millet V., Mancini J., and Philip N. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. Am. J. Med. Genet. 72 (1997) 222-226
3. Chen E., Cotter P.D., Cohen R.A., and Lachman R.S. Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. Am. J. Med. Genet. 101 (2001) 240-245
4. Cormier-Daire V., Superti-Furga A., Munnich A., Lyonnet S., Rustin P., Delezoide A.L., De Lonlay P., Giedion A., Maroteaux P., and Le Merrer M. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am. J. Med. Genet. 78 (1998) 146-149
5. Cormier-Daire V., Geneviève D., Munnich A., and Le Merrer M. New insights in congenital bowing of the femora. Clin. Genet. 66 (2004) 169-176
6. Crisponi L., Crisponi G., Meloni A., Toliat M.R., Nürnberg G., Usala G., Uda M., Masala M., Höhne W., Becker C., Marongiu M., Chiappe F., Kleta R., Rauch A., Wollnik B., Strasser F., Reese T., Jakobs C., Kurlemann G., Cao A., Nürnberg P., and Rutsch F. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am. J. Hum. Genet. 80 (2007) 971-981
7. Dagoneau N., Scheffer D., Huber C., Al-Gazali L.I., Di Rocco M., Godard A., Martinovic J., Raas-Rothschild A., Sigaudy S., Unger S., Nicole S., Fontaine B., Taupin J.L., Moreau J.F., Superti-Furga A., Le Merrer M., Bonaventure J., Munnich A., Legeai-Mallet L., and Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am. J. Hum. Genet. 74 (2004) 298-305
8. Dagoneau N., Bellais S., Blanchet P., Sarda P., Al-Gazali L.I., Di Rocco M., Huber C., Djouadi F., Le Goff C., Munnich A., and Cormier-Daire V. Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. Am. J. Hum. Genet. 80 (2007) 966-970
9. Di Rocco M., Stella G., Bruno C., Doria-Lamba L., Bado M., and Superti-Furga A. Long-term survival in Stuve-Wiedemann síndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am. J. Med. Genet. 118A (2003) 362-368
10. Kozlowski K., and Tenconi R. Stüve-Wiedemann dysplasia in a 31/2-year-old boy. Am. J. Med. Genet. 63 (1996) 17-19
11. Mendes-Gaspar I., Saldanha T., Cabral P., Vilhena M.M., Tuna M., Costa C., Dagoneau N., Cormier-Daire V., and Hennekam R.C.M. Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. Am. J. Med. Genet. 146A (2008) 1748-1753
12. Münchau A., Good C.D., McGowan S., Quinn N.P., Palmer J.D., and Bhatia K.P. Prospective study of swallowing function in patients with cervical dystonia undergoing selective peripheral denervation. J. Neurol. Neurosurg. Psychiatry 71 (2001) 67-72
13. Raas-Rothschild A., Ergaz-Schaltiel E., Bar-Ziv J., and Rein A.J.J.T. Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome. Am. J. Med. Genet. 121A (2003) 156-158
14. Rugolo S., Cavallaro A., Giuffrida L., and Cianci A. Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome. Minerva Ginecol 59 (2007) 91-94
15. Stüve A., and Wiedemann H.R. Congenital bowing of the long bones in two sisters. Lancet 2 (1971) 495
16. Sudo Y., Ezura Y., Ishida R., Kajita M., Yoshida H., Suzuki T., Hosoi T., Inoue S., Shiraki M., Orimo H., Ito H., and Emi M. Association of a single-nucleotide polymorphism in the promoter region of leukemia inhibitory factor receptor gene with low bone mineral density in adult women. Geriatr. Gerontol. Int. 4 (2004) 245-249
17. Superti-Furga A., Tenconi R., Clementi M., Eich G., Steinmann B., Boltshauser E., and Giedion A. Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for lumping. Am. J. Med. Genet. 78 (1998) 150-154