PMID- 12567416
OWN - NLM
STAT- MEDLINE
DCOM- 20030807
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 117A
IP  - 2
DP  - 2003 Mar 1
TI  - Oligoyric microcephaly in a child with Williams syndrome.
PG  - 169-71
AB  - 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.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Faravelli, Francesca
AU  - Faravelli F
AD  - Department of Pediatric Neurology, Besta Institute, Milan, Italy.
FAU - D'Arrigo, Stefano
AU  - D'Arrigo S
FAU - Bagnasco, Irene
AU  - Bagnasco I
FAU - Selicorni, Angelo
AU  - Selicorni A
FAU - D'Incerti, Ludovico
AU  - D'Incerti L
FAU - Riva, Daria
AU  - Riva D
FAU - Pantaleoni, Chiara
AU  - Pantaleoni C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/genetics/pathology
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Growth Disorders/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Microcephaly/*pathology
MH  - Williams Syndrome/genetics/*pathology
EDAT- 2003/02/05 04:00
MHDA- 2003/08/09 05:00
CRDT- 2003/02/05 04:00
PHST- 2003/02/05 04:00 [pubmed]
PHST- 2003/08/09 05:00 [medline]
PHST- 2003/02/05 04:00 [entrez]
AID - 10.1002/ajmg.a.10892 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Mar 1;117A(2):169-71. doi: 10.1002/ajmg.a.10892.