BENIGN CONGENITAL HYPOTONIA WITH CHROMOSOMAL ANOMALY

Abstract

The present concepts of amyotonia congenita are briefly outlined. Particular reference is made to the clinical syndrome of benign congenital hypotonia, which corresponds to Oppenheim's original concept of a sporadic benign condition and represents the cases of amyotonia not due to infantile progressive muscular atrophy on symptomatic of any other disease entity. The case of a boy is reported who has such a benign form of hypotonia, as well as undescended testes, delayed osseous development and a few other congenital stigmata. He has been studied from birth to the age of nearly 3 years and has been found to have an extra small chromosome resembling the Group 21-22 + Y. The diagnosis and findings are discussed, with particular reference to the possible significance of the chromosomal anomaly. Suggestions for the future investigation of similar cases are made.