In 1964 de Grouchy, Royer, Salmon, and Lamy described a deaf and mentally retarded microcephalic girl in whom the long arm of one No. 18 chromosome was about half its usual length. Since then two other microcephalic children, a boy and a girl, have been found to have this chromosome aberration (Lejeune, Berger, Lafourcade, and R6thore, 1966). Lejeune suggested on the basis of their findings that a recognizable syndrome was emerging in association with this deficiency. This paper presents the clinical features and results of the genetic investigations of two further cases, both boys, in whom the tetrad of microcephaly, minute penis, cryptorchidism, and talipes equinovarus was present.Case Reports Case 1. This boy, birthweight 2 * 63 kg., was the only child of a 20-year-old mother and a 23-year-old father. There was no history of miscarriage, and the pregnancy was uneventful. At delivery the cord was tight around the neck and the baby was slow to breathe. Cryptorchidism and bilateral talipes equinovarus deformities were noted, and the skull bones were unusually soft. Subsequent progress was slow and he failed to gain his milestones. Feeding was laborious.He was investigated when he was 16 months old. Microcephaly (head circumference 40 * 5 cm.: chest circumference 40 cm.) and mental retardation were marked. He was small, length 71 * 7 cm.; weight 7 -27 kg. The facies were not striking but he did have a left internal strabismus, epicanthic folds, and a carp mouth (Fig. 1). The ears, their drums, the palate, and the five erupted teeth were normal.The heart was normal to auscultation and all peripheral pulses were palpable. There were deep skin dimples over the acromial processes. The penis only protruded for 0 -5 cm. above the fatty ridge that lay over the pubis. The hands tended to remain clenched with the left index finger deviated to the ulnar border and lying over the middle finger. All the fingers but the left index could be extended easily. A single transverse crease lay in the palm of the right hand. The deformities of the feet had been successfully treated by manipulation, serial plasters, and surgical extension of the tendo-achilles. The feet were oedematous. The second right toe overrode the third (Fig. 2).At 16 months he could control his head but the back was still rounded and he could not sit unsupported. He could see, hear, laugh, and cry. Fundal examination revealed that both discs were unusually pale, probably the result of 1°optic atrophy. Muscular tone was thought to be normal.Investigations. Nuclear sexing. The nuclei of buccal mucosal cells and polymorphonuclear neutrophils showed no sex chromatin.
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