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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#