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. Prognosis is severe with neonatal death in most children.
Synopsis
polyhydramnios
macrosomia (large birth size)
craniofacial anomalies
- unusual facies
- depressed nasal bridge
- anteverted upper lip
- round facial fullness
- open mouth
- long upper lip
- inverted V-shaped upper lip
- upsweep of anterior scalp hair
- micrognathia
cardiac malformation (10508986)
fetal hepatic fibrosis with portoportal bridging (10508986)
hemangioma (10508986)
volvulus (10508986)
intestinal atresia (10508986)
agenesis of the corpus callosum (10508986)
cleft palate (10508986)
renal anomalies
- bilateral nephromegaly with nephroblastomatosis
- renal dysplasia
- bilateral renal hamartomas
- nephroblastomatosis
- Wilms tumor
visceromegaly
cryptorchidism
diaphragmatic hernia
interrupted aortic arch
fetal ascites without hydrops
abdominal muscular hypoplasia
hypospadias
polysplenia
islets of Langerhans hypertrophy (hyperinsulinism)
neonatal hemagioma (16912594)
digestive anomalies
- digestive volvulus
- distal ileal atresia
corpus callosum agenesis
Etiology
11p anomalies
- tumor-specific loss of 11p DNA sequences (3039839)
References
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ. Perlman syndrome: four additional cases and review. Am J Med Genet. 1999 Oct 29;86(5):439-46. PMID: 10508986
Herman TE, McAlister WH. Perlman syndrome: report of a case with additional radiographic findings. Pediatr Radiol. 1995 Nov;25 Suppl 1:S70-2. PMID: 8577560
Greenberg F, Copeland K, Gresik MV.Expanding the spectrum of the Perlman syndrome.Am J Med Genet. 1988 Apr;29(4):773-6. PMID: 2840828
Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Riccardi VM, Beaudet AL. The Perlman familial nephroblastomatosis syndrome. Am J Med Genet. 1986 May;24(1):101-10. PMID: 3010722