Autosomal dominantly inherited adductor laryngeal paralysis ‐ a new syndrome with a suggestion of linkage to HLA

Abstract

A family is reported with autosomal dominantly inherited congenital bilateral adductor paralysis of the larynx. This disorder has apparently not been described previously. A search for linkage in this family with the loci for 19 other genetic markers showed a suggestion of linkage with HLA and GLO, and accordingly a suggestion that the locus for this disorder may be assigned to chromosome 6.

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

“…Often neonatal stridor and swallowing difficulties are the first manifestations. Linkage of a gene for congenital bilateral adductor paralysis to chromosome 6q16 has been suggested [Mace et al, 1978;Manaligod et al, 2001]. Schinzel et al [1990] reported laryngeal paralysis and intellectual disability in a brother and two sisters.…”

“…Congenital aphonia, either isolated or as part of a syndrome, is infrequent. Congenital vocal cord paralysis is the main cause for aphonia and is usually transmitted in an autosomal dominant way [Gacek, 1976;Mace et al, 1978;Morelli et al, 1980;Brunner and Herrmann, 1982;Grundfast and Milmoe, 1982;Cunningham et al, 1985;Tarin et al, 2005]. Often neonatal stridor and swallowing difficulties are the first manifestations.…”

A Rare Presentation of Neonatal Stridor

“…Previous studies have associated the autosomal dominant form of bilateral VCP with a locus on chromosome 6. In 1978, Mace et al 6 proposed linkage of familial laryngeal adductor paralysis to human leukocyte antigen (HLA) on chromosome 6p21. In 2001, Manaligod et al 7 discovered an allele on chromosome 6q16, which occurred with higher incidence in affected individuals.…”

Bilateral Abductor Palsy in Neonates

“…Patients usually present with bilateral vocal fold paralysis and mental retardation. Autosomal dominant mode of inheritance has also been reported [3][4][5]. Other syndromic associations may be Down's syndrome, Moebius syndrome, congenital myasthenic syndrome, 22q deletion syndrome and Goldenhar syndrome [6].…”