Premium
Oligoyric microcephaly in a child with Williams syndrome
Author(s) -
Faravelli Francesca,
D'Arrigo Stefano,
Bagnasco Irene,
Selicorni Angelo,
D'Incerti Ludovico,
Riva Daria,
Pantaleoni Chiara
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10892
Subject(s) - microcephaly , magnetic resonance imaging , anatomy , pathology , medicine , biology , genetics , radiology
We report a 19‐month‐old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly. © 2002 Wiley‐Liss, Inc.