Larynx, Congenital Partial Atresia Of

Baker and Savetsky (1966) described affected mother and 2 children. The mother had been reported by O'Kane (1936). Tracheostomy was performed within minutes after birth because of laryngeal obstruction. The patient developed a satisfactory voice despite a larynx of infantile size and despite a permanent tracheostomy. She graduated from college, married and had 2 children, a son and a daughter, both of whom required tracheostomy soon after birth. Lewandowski and Yunis (1977) suggested that a locus on the short arm of chromosome 5 may be responsible for this disorder, as indicated by the characteristic cri-du-chat 5p deletion. They studied a family in which 3 members had the cri du chat syndrome (123450) with deletion only of the distal half of the light band 5p15.

As patients with the cri-du-chat syndrome age, about 30% of them develop gray hair prematurely (Niebuhr, 1971). Premature graying has not been commented on with any of the congenital disorders leading to laryngeal stenosis. The separateness from laryngomalacia (150280) is likely but not certain. Posterior laryngeal cleft (215800) may also be mendelian. Overhauser et al. (1994) concluded that a critical chromosomal region involved in the high-pitched cry of the cat cry syndrome is 5p15.3, while the chromosomal region involved in the remaining features of the syndrome is a small region within 5p15.2.