ECTODERMAL DYSPLASIA, ACHONDRODYSPLASIA, AND CONGENITAL MORBUS CORDIS

Abstract

IN THE tenth edition of the Holt-McIntosh "Diseases of Infancy and Childhood"¹a curious case is mentioned of a girl aged 4 yr. with stunted growth, supernumerary digits, and squint. The four members were too short for the size of the trunk; each hand had six fingers with hypoplastic nails, and the feet were similarly malformed. The hair was rather fine; the eyebrows and eyelashes were normal. The teeth were cone-shaped. The sweat and sebaceous glands functioned normally. The basal metabolic rate was +35%. Roentgen examination showed brachydactylia and chondrodysplasia but no signs of congenital deformity of the heart.² Ellis³in 1940 presented the description of a girl aged 20 mo. whose nails were defective and whose teeth erupted late and were also defective. The hair was fair and sparse and the skin dry and scaly. The limbs were too short, the proximal segments being more reduced