Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

Anna S. Victorine, Jennifer Weida, Karrie A. Hines, Barrett Robinson, Wilfredo Torres-Martinez, David D. Weaver

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

Original languageEnglish (US)
Pages (from-to)820-823
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number3
DOIs
StatePublished - Mar 2014

Keywords

  • Carpenter syndrome
  • Craniosynostosis
  • Defect of lateralization
  • Heterotaxy
  • Intestinal malrotation
  • Ovarian cyst
  • Polysyndactyly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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