Perlman syndrome—a cause of enlarged, hyperechogenic kidneys

Chitty, Lyn S.; Clark, Terry; Maxwell, D.

doi:10.1002/(sici)1097-0223(199811)18:11<1163::aid-pd408>3.0.co;2-1

Cited by 25 publications

(20 citation statements)

References 11 publications

(11 reference statements)

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“…We reviewed the 28 patients with typical Perlman syndrome published since the initial report by Liban and Kozenitsky 1970. Some cases with inadequate clinical detail but who had a sib presenting with documented Perlman syndrome were included [Perlman et al, 1975; Greenberg et al, 1986; Chitty et al, 1998]. Two sibs have been published twice [van der Stege et al, 1998; Henneveld et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

“…Additional patients have been described by Greenberg et al 1986, Hamel et al 1989, Chernos et al 1990, Grundy et al 1992, Herman and McAlister 1995, Coppin et al 1997, Fahmy et al 1998, Henneveld et al 1999, Schilke et al 2000, Piccione et al 2005 and Pirgon et al 2006. Some cases have been described with prenatal sonographic findings [Chitty et al, 1998; van der Stege et al, 1998; DeRoche et al, 2004]. We present a new patient with prenatal findings and review the literature.…”

Section: Introductionmentioning

confidence: 99%

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Perlman syndrome: Report, prenatal findings and review

Alessandri

Cuillier

Ramful

et al. 2008

American J of Med Genetics Pt A

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Perlman syndrome: Report, prenatal findings and review

Alessandri

Cuillier

Ramful

et al. 2008

American J of Med Genetics Pt A

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“…ARPKD, ADPKD and dysplasia are the most common causes for fetal renal hyperechogenicity. However, it is not possible to ascertain the aetiology of fetal hyperechogenic kidneys by ultrasound alone 10 . The only prospective survey of hyperechogenic fetal kidneys published so far consisted of 19 cases, 14 of which had bilateral increased renal parenchymal echogenicity.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

Tsatsaris

2002

BJOG: An International Journal of Obstetrics and Gynaecology

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“…There have been a few reports of abnormal prenatal sonographic findings in Perlman syndrome (Table 1) (Chitty et al ., 1998; DeRoche et al, 2004, van der Stege et al ., 1998; Henneveld et al ., 1999). Significant overlap between Perlman, Simpson-Golabi-Behmel, and Beckwith Wiedemann syndromes exists.…”

Section: Considerations In the Differential Diagnosismentioning

confidence: 99%

Genetic considerations in the prenatal diagnosis of overgrowth syndromes

Vora

Bianchi

2009

Prenatal Diagnosis

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Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks.

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Perlman syndrome—a cause of enlarged, hyperechogenic kidneys

Cited by 25 publications

References 11 publications

Perlman syndrome: Report, prenatal findings and review

Perlman syndrome: Report, prenatal findings and review

Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?

Genetic considerations in the prenatal diagnosis of overgrowth syndromes

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