AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations

Abstract

A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal-recessive genes.