Abstract
We report a mother and son with 5th, 6th, 7th, and bulbar cranial nerve paralysis, who had two similarly affected relatives. None of them had primary skeletal defects. Twenty-six previous reports of familial cases within the heterogeneous 'Möbius spectrum of defects' were reviewed. When cranial nerve palsies were associated with a primary skeletal defect, familial transmission was not found. No recurrence was noted in 31 cases with cranial nerve palsies associated with oral abnormalities and limb defects. The term Möbius syndrome should be restricted to cases with congenital 6th and 7th nerve paralysis with skeletal defects, who have a low recurrence risk (2%). The features in an index case which may indicate a higher risk of recurrence are the absence of skeletal defects, isolated facial palsy, deafness, ophthalmoplegia, and digital contractures. A recurrence risk of 25 to 30% in these cases appears reasonable.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Anderson C. E., Hollister D., Szalay G. C. Autosomal dominantly inherited cutis aplasia congenita, ear malformations, right-sided facial paresis, and dermal sinuses. Birth Defects Orig Artic Ser. 1979;15(5B):265–270. [PubMed] [Google Scholar]
- Baraitser M. Genetics of Möbius syndrome. J Med Genet. 1977 Dec;14(6):415–417. doi: 10.1136/jmg.14.6.415. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Becker-Christensen F., Lund H. T. A family with Möbius syndrome. J Pediatr. 1974 Jan;84(1):115–117. doi: 10.1016/s0022-3476(74)80569-x. [DOI] [PubMed] [Google Scholar]
- Collins D. L., Schimke R. N. Moebius syndrome in a child and extremity defect in her father. Clin Genet. 1982 Dec;22(6):312–314. doi: 10.1111/j.1399-0004.1982.tb01845.x. [DOI] [PubMed] [Google Scholar]
- HARRISON M., PARKER N. Congenital facial diplegia. Med J Aust. 1960 Apr 23;47(1):650–653. doi: 10.5694/j.1326-5377.1960.tb62680.x. [DOI] [PubMed] [Google Scholar]
- Herrmann J., Pallister P. D., Gilbert E. F., Vieseskul C., Bersu E., Pettersen J. C., Opitz J. M. Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome. Eur J Pediatr. 1976 Apr 6;122(1):19–55. doi: 10.1007/BF00445030. [DOI] [PubMed] [Google Scholar]
- Legum C., Godel V., Nemet P. Heterogeneity and pleiotropism in the Moebius syndrome. Clin Genet. 1981 Oct;20(4):254–259. doi: 10.1111/j.1399-0004.1981.tb01030.x. [DOI] [PubMed] [Google Scholar]
- Masaki S. Congenital bilateral facial paralysis. Arch Otolaryngol. 1971 Sep;94(3):260–263. doi: 10.1001/archotol.1971.00770070254014. [DOI] [PubMed] [Google Scholar]
- May M., Fria T. J., Blumenthal F., Curtin H. Facial paralysis in children: differential diagnosis. Otolaryngol Head Neck Surg. 1981 Sep-Oct;89(5):841–848. doi: 10.1177/019459988108900528. [DOI] [PubMed] [Google Scholar]
- Mitter N. S., Chudley A. E. Facial weakness and oligosyndactyly: ? independent variable features of familial type of the Möbius syndrome. Clin Genet. 1983 Nov;24(5):350–354. [PubMed] [Google Scholar]
- Nicolai J. P., Bos M. Y., ter Haar B. G. Hereditary congenital facial paralysis. Scand J Plast Reconstr Surg. 1986;20(1):37–39. doi: 10.3109/02844318609006289. [DOI] [PubMed] [Google Scholar]
- PLOTT D. CONGENITAL LARYNGEAL-ABDUCTOR PARALYSIS DUE TO NUCLEUS AMBIGUUS DYSGENESIS IN THREE BROTHERS. N Engl J Med. 1964 Sep 17;271:593–597. doi: 10.1056/NEJM196409172711203. [DOI] [PubMed] [Google Scholar]
- ROSIN V. S. NASLEDSTVENNY I PARALICH LITSEVOGO NERVA. Zh Nevropatol Psikhiatr Im S S Korsakova. 1963;63:1320–1321. [PubMed] [Google Scholar]
- Ziter F. A., Wiser W. C., Robinson A. Three-generation pedigree of a Möbius syndrome variant with chromosome translocation. Arch Neurol. 1977 Jul;34(7):437–442. doi: 10.1001/archneur.1977.00500190071011. [DOI] [PubMed] [Google Scholar]