Intestinal malrotation in a patient with Pfeiffer syndrome type 2.
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.
Greenwood Genetic Center, Columbia, South Carolina, USA.
Yuri A
YA
Zarate
Philip E
PE
Putnam
Howard M
HM
Saal
D000168:Acrocephalosyndactylia / Q000145:classification / Q000473:pathology*; D057210:Delayed Diagnosis; D004065:Digestive System Abnormalities / Q000150:complications / Q000209:etiology*; D004383:Duodenogastric Reflux / Q000209:etiology; D006801:Humans; D007223:Infant; D007415:Intestinal Obstruction / Q000209:etiology; D045822:Intestinal Volvulus / Q000150:complications / Q000209:etiology*; D007583:Jejunum / Q000002:abnormalities*; D008297:Male; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D014839:Vomiting / Q000209:etiology*
D051497:Receptor, Fibroblast Growth Factor, Type 2