A family with hereditary congenital facial paresis and a brief review of the literature

Clinical Dysmorphology

Volumn 19, Issue 4, 2010, Pages 198-201

  Alrashdi, Ismail S ^a   Rich, Philip ^b   Patton, Michael A ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b ST GEORGE S HOSPITAL   (United Kingdom)

Author keywords

facial nerve; facial palsy; facial weakness; hereditary congenital facial paresis; magnetic resonance imaging scan; Moebius syndrome; neuroradiology

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 3Q; FACE ASYMMETRY; FACE PROFILE; FACIAL EXPRESSION; FACIAL NERVE HYPOPLASIA; FACIAL NERVE PARALYSIS; FAMILY; FEMALE; GENETIC DISORDER; HEREDITARY CONGENITAL FACIAL PARESIS; HUMAN; HYPOPLASIA; MALE; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; FACIAL PARALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MALE;

EID: 77957554083     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832b7700     Document Type: Article

References (15)

1. Briegel W (2006). Neuropsychiatric findings of Moebius sequence-a review. Clin Genet 70:91-97.
2. Carmena M, Gomez Marcano E (1943). Paralysis facial hereditaria. Rev Clin Esp 8:266-268.
3. Hermann J, Pallister PD, Gilbert EF, Vieseskul C, Bersu E, Petersen JC, Optiz JM. (1976). Studies of malformation syndromes of man. Nosologic studies in the Hanhart and the Moebius syndrome. Eur J Pediatr 122:19-55.
4. Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JAM, Hamel BCJ, et al. (1996). Localization of a gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Molec Genet 5:1367-1371.
5. Kumar D (1990). Moebius syndrome. J Med Genet 27:122-126.
6. MacDermot KD, Winter RM, Taylor D, Baraitser M (1991). Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the Moebius spectrum of defects. J Med Genet 28:18-26.
7. Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JAJM, Raashid Y, et al. (2006). Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. Eur J Hum Genet 14:1306-1312.
8. Skyberg D, Van der Hagen CB (1965). Congenital hereditary unilateral facial palsy in four generations. Acta Paediat Scand 159:77-79.
9. Suvarna J, Bagnawar M, Deshmukh CT (2006). Moebius syndrome with total anomalous pulmonary venous connection. Indian J Pediatr 73:427-429.
10. Van der Wiel HJ (1957). Hereditary congenital facial paralysis. Acta Genet Statist Med 7:348.
11. Van der Zwaag B, Burbach JPH, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, et al. (2005). Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. Genomics 86:55-67.
12. Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW (2003). Moebius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology 61:327-333.
13. Verzijl HTFM, Padberg GW, Zwarts MJ (2005a). The spectrum of Moebius syndrome: an electrophysiological study. Brain 128:1728-1736.
14. Verzijl HTFM, Valk J, de Vries R, Padberg GW (2005b). Radiologic evidence for absence of the facial nerve in Moebius syndrome. Neurology 64:849-855.
15. Verzijl HT, van der Zwaag B, Lammens M, ten Donkelaar HJ, Padberg GW (2005c). Neuropathology of hereditary congenital facial palsy vs. Moebius syndrome. Neurology 64:649-653.