A Syndrome of Retarded Development With Characteristic Appearance

Abstract

THREE unrelated white children resemble each other in general appearance and in many details and appear to have a syndrome which has not been recognized before. They attract attention by their prominent eyes and forehead, infantile face, small size, and very retarded development. A description of the features of these patients may lead to the discovery of other affected children and facilitate the classification and understanding of the disorders associated with mental retardation. In search of the causes of this condition, the medical history emphasized family background and medication during pregnancy. Laboratory tests were performed to detect any metabolic, chromosomal, or endocrine aberrations. Ophthalmologic nancy. Laboratory tests were performed The entire bony skeleton was examined roentgenographically. The results of this extensive series of studies of these three children are presented in tabular form, and one patient is described in more detail. <h3>Report of a Case</h3> Patient 1, now 8 years