However, several survivors are reported with initially normal neurologic status and psychomotor development. In 1971 Maroteaux reported a case of campomelic syndrome in a boy alive at 17 years of age with an IQ of 45 and hearing loss 13 . Since campomelic dysplasia is almost always a fatal anomaly, the option of pregnancy termination should be offered before viability. At birth, the neonate usually presents with respiratory distress and requires ventilatory assistance. However, in spite of many efforts to ventilate these babies, most of them die within days or weeks because of the severe degree of laryngotracheobroncho malacia which is typical of this disease.
Birth defects encyclopedia.
Blackwell Scientific Publications, pp 252-253, 1990. Romero R, Pilu G, Jeanty P. et al. Prenatal diagnosis of congenital anomalies. Appleton and Lange, Norwalk, Connecticut, 1988. Khajavi A, Lachman R, Rimoin N, et al.