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Postmortem findings and prenatal diagnosis of Zellweger syndrome
Author(s) -
LINDHARD A.,
GRÆM N.,
SKOVBY F.,
JEPPESEN D.
Publication year - 1993
Publication title -
apmis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.909
H-Index - 88
eISSN - 1600-0463
pISSN - 0903-4641
DOI - 10.1111/j.1699-0463.1993.tb00104.x
Subject(s) - zellweger syndrome , hypotonia , medicine , pathology , prenatal diagnosis , pachygyria , craniofacial , lissencephaly , pregnancy , pediatrics , fetus , biology , biochemistry , receptor , psychiatry , gene , genetics , peroxisome
The postmortem findings of siderosis, renal cortical cysts, pachygyria, cortical heterotopia of the brain and cerebellar hypoplasia in a seven‐week‐old infant with craniofacial dysmorphism and hypotonia prompted the diagnosis of Zellweger syndrome. This was confirmed by analysis of very‐long‐chain fatty acids in blood spots from filter paper, collected in the neonatal period, and allowed first trimester diagnosis in the subsequent pregnancies.