Abstract
We present the clinical and follow-up data of a female infant with Perlman syndrome from birth to the age of 9 years. Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor. In our patient, the nephromegaly with nephroblastomatosis was not present at birth or during the neonatal period; it became evident in the first months of postnatal life. A Wilm's tumor was diagnosed when she was about 1 year old. Long term follow-up documents the natural history of Perlman syndrome and allows us to establish the long-term prognosis of the affected individuals.
Lingua originale | English |
---|---|
pagine (da-a) | 131-135 |
Numero di pagine | 5 |
Rivista | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
Volume | 139A |
Stato di pubblicazione | Published - 2005 |
All Science Journal Classification (ASJC) codes
- ???subjectarea.asjc.1300.1311???
- ???subjectarea.asjc.2700.2716???