4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p 16.3 and involves multiple malformations that results in delayed growth and development and also facial dysmorphism. We report a case of Wolf-Hirschhorn syndrome in a female infant with a 4p deletion, for which the breakpoint was detected at p14. This patient had bilateral renal hypoplasia resulting from the oligohydramnios sequence (Potter syndrome), including characteristic facial abnormalities, deformed limbs, and pulmonary hypoplasia. Patent ductus arteriosus, ascites, and bilateral renal hypoplasia were noted. The patient had frequent pulmonary infections and died when she was 39 days old.
|Number of pages||3|
|Journal||Journal of the Formosan Medical Association|
|Publication status||Published - 2003 Sep|
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