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3q13 microdeletion syndrome
Monday 16 June 2008
Synopsis
brachycephaly
broad forehead and prominent forehead
flat nasal bridge
prominent ears
anteverted nose
tetralogy of Fallot
bilateral cryptorchidism
peripheral skeletal anomalies
References
Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M. Delineation of the proximal 3q microdeletion syndrome. Am J Med Genet A. 2008 Jun 5. PMID: 18536049