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Perlman syndrome: Four additional cases and review

29 Oct 1999

Abstract excerpt

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested....

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PMID: 10508986
DOI: 10.1002/(sici)1096-8628(19991029)86:5<439::aid-ajmg9>3.0.co;2-4

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