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Perlman syndrome: Four additional cases and review
American journal of medical genetics, 1999-10, Vol.86 (5), p.439-446
Henneveld, Hetty Th
van Lingen, Richard A.
Hamel, Ben C.J.
Stolte‐Dijkstra, Irene
van Essen, Antonie J.
1999
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Henneveld, Hetty Th
van Lingen, Richard A.
Hamel, Ben C.J.
Stolte‐Dijkstra, Irene
van Essen, Antonie J.
Titel
Perlman syndrome: Four additional cases and review
Ist Teil von
American journal of medical genetics, 1999-10, Vol.86 (5), p.439-446
Ort / Verlag
New York: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
1999
Quelle
MEDLINE
Beschreibungen/Notizen
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. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non‐consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor. Am. J. Med. Genet. 86:439–446, 1999. © 1999 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 0148-7299
eISSN: 1096-8628
DOI: 10.1002/(SICI)1096-8628(19991029)86:5<439::AID-AJMG9>3.0.CO;2-4
Titel-ID: cdi_proquest_miscellaneous_70789334
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
cleft palate
,
Cryptorchidism - genetics
,
Face - abnormalities
,
Female
,
fetal gigantism
,
Fetal Macrosomia - genetics
,
Genes, Recessive
,
haemangioma
,
hepatic fibrosis
,
Humans
,
hypoglycaemia
,
Infant, Newborn
,
intestinal atresia
,
Jews - genetics
,
Kidney - abnormalities
,
Kidney - pathology
,
Kidney Neoplasms - genetics
,
macrosomia
,
Male
,
nephroblastomatosis
,
Netherlands
,
Perlman syndrome
,
polyhydramnios
,
renal dysplasia
,
renal hamartomas
,
volvulus
,
Wilms tumor
,
Wilms Tumor - genetics
,
Yemen - ethnology
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