Perlman syndrome is an overgrowth syndrome first described in 1973. It overlaps with Beckwith-Wiedemann Syndrome (BWS) and Simpson-Golabi-Behmel Syndrome (SGBS).
Inheritance: autosomal recessive or sporadic
(1) neonatal macrosomia (gigantism)
(2) polyhydramnios and fetal ascites but without hydrops
(3) renal anomalies: nephromegaly, dysplasia with polycystic kidneys, bilateral hamartomas, nephroblastomatosis
(4) abdominal muscular hypoplasia and muscular hypotonia
(5) other visceromegaly
(6) distinctive facial appearance: macrocephaly
(7) cryptorchidism in males
(8) severe neurodevelopmental deficits with generalized cerebral atrophy
(9) variable other anomalies: cardiac defects, congenital diaphragmatic hernia, thymus hyperplasia
(1) Wilm’s tumor
(2) respiratory failure
(3) death soon after birth or infancy
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