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Suggested Resource for Laryngeal abductor paralysis mental retardation (GARD)
Genetic and Rare Diseases (GARD) Information Center
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Gaithersburg, MD 20898-8126
Tel: (301)251-4925
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Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx
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02/22/2012 10:10 PM
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Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected.
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J Med Genet. 1990 Nov; 27(11): 715-6 Schinzel A, Hof E, Dangel P, Robinson W A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, who was healthy and of normal intelligence, was found on laryngoscopy to have unilateral laryngeal abductor paralysis. This is the first family with both mentally retarded and nonretarded affected members with congenital laryngeal abductor paralysis. Inheritance is most likely autosomal dominant with variable expression, but autosomal recessive inheritance, with both parents carriers and the mother an affected homozygote, and X linked inheritance are also possible.
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02/22/2012 10:10 PM
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[Familial recurrent laryngeal nerve paralysis, a genetically fixed syndrome -- additional remark on linkage of deficiency gene and HLA (author's transl)].
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Laryngol Rhinol Otol (Stuttg). 1982 Apr; 61(4): 186-8 Brunner FX, Herrmann IF Hereditary laryngeal paralysis has been rarely reported. Some authors describe additional neurological signs in connection with the cranial nerve, or mental retardation. It has been assumed that there is a causal connection with genetic deficiency. Familial studies, presented with this article, showed abductor and adductor paralysis in the mother and in the son, aged 13, abductor paralysis in the daughters, who were 11 and 5 years old, respectively, and normal laryngeal function in the father and in one 10-year old daughter. There were no neurological signs or mental deficits in any member of the family. Genetic analysis of blood-group and HLA systems confirmed linkage of the HLA system and vocal cord disorder, as suggested by Mace et al. (5). Hence, further observations and investigations will be necessary to prove this statement.
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02/22/2012 10:10 PM
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Hereditary abductor vocal cord paralysis.
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Ann Otol Rhinol Laryngol. 1976 Jan-Feb; 85(1 Pt 1): 90-3 Gacek RR Familial bilateral abductor cord paralysis was described in the father and two sons of a family in which the ramaining siblings (obe boy and three girls) were normal. The onset of stridor ranged from six months to nine years after birth in these patients who were all treated with a tracheostomy. Normal development and intelligence was experienced by all three patients. Since previous reports of hereditary abductor cord paralysis described mental retardation in all patients who were maintained without tracheostomy, anoxia from unrelieved laryngeal obstruction may be a significant complication following nonsurgical management of patients who appear to tolerate bilateral abductor vocal cord paralysis.
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02/22/2012 10:10 PM
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Familial laryngeal abductor paralysis and psychomotor retardation.
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Clin Genet. 1973; 4(5): 429-33 Watters GV, Fitch N
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02/22/2012 10:10 PM
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CONGENITAL LARYNGEAL-ABDUCTOR PARALYSIS DUE TO NUCLEUS AMBIGUUS DYSGENESIS IN THREE BROTHERS.
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N Engl J Med. 1964 Sep 17; 271: 593-7 PLOTT D
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