PMID- 18412232 OWN - NLM STAT- MEDLINE DCOM- 20081021 LR - 20161124 IS - 1097-0096 (Electronic) IS - 0091-2751 (Linking) VI - 36 IP - 6 DP - 2008 Jul-Aug TI - Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. PG - 387-90 LID - 10.1002/jcu.20473 [doi] AB - X-linked lissencephaly with ambiguous genitalia syndrome (XLAG) (OMIM #3000215) is a rare, severe malformation of the brain cortex with abnormal neuronal migration caused by mutations of the ARX gene. All the reported patients with lissencephaly are males who presented with a posterior-to-anterior gradient, moderately increased thickness of the brain cortex, agenesis of corpus callosum, micropenis, and cryptorchidism. We describe the neurosonographic findings associated with the XLAG syndrome. To our knowledge, the association between XLAG and lenticulostriate vasculopathy has not been reported before. CI - (c) 2008 Wiley Periodicals, Inc. FAU - Jagla, Mateusz AU - Jagla M AD - Department of Pediatrics, Collegium Medicum of Jagiellonian University, ul. Wielicka 265, 30-663 Krakow, Poland. FAU - Kruczek, Piotr AU - Kruczek P FAU - Kwinta, Przemko AU - Kwinta P LA - eng PT - Case Reports PT - Journal Article PL - United States TA - J Clin Ultrasound JT - Journal of clinical ultrasound : JCU JID - 0401663 SB - IM MH - Basal Ganglia Cerebrovascular Disease/*diagnostic imaging/genetics MH - Brain/*abnormalities MH - Chromosomes, Human, X/genetics MH - Genetic Linkage MH - Genitalia, Male/*abnormalities MH - Humans MH - Infant, Newborn MH - Male MH - Phenotype MH - Syndrome MH - Ultrasonography EDAT- 2008/04/17 09:00 MHDA- 2008/10/22 09:00 CRDT- 2008/04/17 09:00 PHST- 2008/04/17 09:00 [pubmed] PHST- 2008/10/22 09:00 [medline] PHST- 2008/04/17 09:00 [entrez] AID - 10.1002/jcu.20473 [doi] PST - ppublish SO - J Clin Ultrasound. 2008 Jul-Aug;36(6):387-90. doi: 10.1002/jcu.20473.