Intestinal malrotation in a patient with Pfeiffer syndrome type 2

Cleft Palate Craniofac J. 2010 Nov;47(6):638-41. doi: 10.1597/09-115. Epub 2010 Feb 28.

Abstract

Pfeiffer syndrome is a pleiotropic disorder characterized by multiple suture craniosynostosis, broad and medially deviated thumbs and great toes, and variable cutaneous syndactyly. We present the case of a 16-month-old boy with Pfeiffer syndrome type 2 who presented with intestinal malrotation for which the diagnosis was delayed. This is a rare complication of Pfeiffer syndrome, with few reported cases in the literature. This case illustrates the importance of recognizing gastrointestinal malrotation as a possible cause of feeding intolerance and persistent vomiting in patients with the severe forms of Pfeiffer syndrome.

Publication types

  • Case Reports

MeSH terms

  • Acrocephalosyndactylia / classification
  • Acrocephalosyndactylia / pathology*
  • Delayed Diagnosis
  • Digestive System Abnormalities / complications
  • Digestive System Abnormalities / etiology*
  • Duodenogastric Reflux / etiology
  • Humans
  • Infant
  • Intestinal Obstruction / etiology
  • Intestinal Volvulus / complications
  • Intestinal Volvulus / etiology*
  • Jejunum / abnormalities*
  • Male
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Vomiting / etiology*

Substances

  • Receptor, Fibroblast Growth Factor, Type 2

Supplementary concepts

  • Volvulus Of Midgut