Document Detail

Perlman syndrome: report, prenatal findings and review.
MedLine Citation:
PMID:  18780370     Owner:  NLM     Status:  MEDLINE    
Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephro-blastomatosis, and predisposition to Wilms tumor (WT). We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. The clinical course was marked by neonatal distress, renal failure and refractory hypoxemia leading to death at 2 days of life. Renal histologic examination showed bilateral nephroblastomatosis. Genetic or epigenetic alterations of the 11p15 region (involved in the BWS), including mutation of the CDKN1C gene were excluded. No mutation of the GPC3 gene was identified. We review the 28 patients who have been reported with Perlman syndrome. The prognosis of Perlman syndrome is poor with a high neonatal mortality rate. Among the infants who survived beyond the neonatal period, 64% developed a WT and all had a developmental delay. Fetal macrosomia, ascites and polyhydramnios are frequent manifestations. Clinical overlaps with other overgrowth syndromes particularly Beckwith-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome have been emphasized. Perlman syndrome is considered as an autosomal recessive condition. We review 19 patients from seven sibships with parental consanguinity in two families only. The other cases were sporadic. The 28 reported patients had only 10 unaffected sibs. The low percentage of consanguinity among parents is also puzzling for a rare recessive condition. The molecular basis of Perlman syndrome is unknown. (Epi)genetic anomalies of 11p15 and mutations in GPC3 were not studied in most of the previous reports.
Jean-Luc Alessandri; Fabrice Cuillier; Duksha Ramful; Sandrine Ernould; Stéphanie Robin; Stefan de Napoli-Cocci; Jean-Pierre Rivière; Sylvie Rossignol
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-30     Completed Date:  2008-11-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2532-7     Citation Subset:  IM    
Copyright Information:
Copyright 2008 Wiley-Liss, Inc.
Centre de Diagnostic Prénatal, Service de Réanimation Néonatale et Pédiatrique, Centre Hospitalier Régional Félix Guyon, Saint-Denis, La Réunion, France.
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MeSH Terms
Amniotic Fluid / ultrasonography
Fatal Outcome
Fetal Macrosomia / diagnosis*,  ultrasonography
Genetic Predisposition to Disease*
Infant, Newborn
Kidney / abnormalities*,  pathology,  ultrasonography
Polyhydramnios / diagnosis*,  ultrasonography
Prenatal Diagnosis*
Ultrasonography, Prenatal
Wilms Tumor / genetics*,  pathology

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