Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2

E. F. Sanford, K. Bermudez-Wagner, L. J B Jeng, Katherine A Rauen, Anne M. Slavotinek

Research output: Contribution to journalArticle

6 Scopus citations


We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia.

Original languageEnglish (US)
Pages (from-to)2816-2820
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2011
Externally publishedYes



  • 17p11.2
  • Congenital diaphragmatic hernia
  • Contiguous gene deletion
  • RAI1 gene
  • Smith-magenis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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