Denouement and Discussion
Major manifestations include renal agenesis and a characteristic facial appearance. The patients are small for dates infants who die soon after birth. Breech presentation and oligohydramnios are common, and scattered over the placenta and membranes are yellow nodular accumulations of vernix cells (amnion nodosum). The oligohydramnios is felt to be partially responsible for failure of normal lung development.The face is flattened and appears prematurely old. The eyes are widely spaced with epicanthal folds and a crease below the lower lids. Characteristically, the nose is flattened and the ears are large, low set, posteriorly placed, floppy, and easily folded because of a deficiency of cartilage. Micrognathia is prominent and a skin crease is often noted on the chin. The kidneys and frequently the ureters are absent or rudimentary, and the uterus and vagina may also be missing. Pulmonary hypoplasia is found in
Gellis SS, Feingold M, Moyer F. Picture of the Month. Am J Dis Child. 1969;118(4):585–586. doi:10.1001/archpedi.1969.02100040587009
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