Arthrogryposis accompanying congenital spinal-type muscular atrophy.

Arthrogryposis is a congenital condition in which multiple skeletal deformities of the extremities and spine are caused by fibrosis and contractures of skeletal muscles accompanying a neurogenic atrophy (Brandt, 1947; Kanof, Aronson, and Volk, 1956; Bargeton, Nezelof, Guran, and Job, 1961; Vestermark, 1966) or a primary myopathy (Thamdrup, 1955; Banker, Victor, and Adams, 1957) acquired in utero. This condition is often seen together with many other congenital anomalies (Katzeff, 1943; Moncrieff and Wiles, 1934), and a hereditary or familial incidence (Swinyard, 1960) has been recorded. Its aetiology is entirely obscure. For a concise review of the published reports on the subject the reader is referred to the monograph on diseases of the muscle by Adams, Denny-Brown, and Pearson (1962). The paucity of reported cases of arthrogryposis in which the spinal cord was examined histologically (only three such cases are cited in the above mentioned monograph) has prompted us to present the following. Clinical History This infant was born by premature labour, after seven and a half months' pregnancy, and lived for only a few minutes. The pregnancy, the mother's first, was normal and there was no history of drug taking or illnesses. The father was healthy and there was no family history of congenital abnormalities and illnesses. A complete necropsy was performed seven hours after death. Necropsy Premature baby. Partially non-aerated lungs. Congenital heart disease with preductal coarctation of aorta (infantile type) combined with hypoplasia of ascending aorta and overriding of ventricular septum by pulmonary artery, unusually wide patent ductus arteriosus, and closed foramen ovale.