Perlman syndrome

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


合計: 1

                       


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PMID (PMCID)
16278893
 FEMALE Infant, Newborn
Perlman syndrome: clinical report and nine-year follow-up.
Piccione M, Cecconi M, Giuffre M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G.
Am J Med Genet A. 2005;139A(2):131-5.
Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor.