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.
BaroneC.M., MarionR., ShanskeA., ArgamasoR.V., ShprintzenR.J.Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. Am J Med Genet.1993; 45: 745–750.
2.
BiyyamD.R., DigheM., SiebertJ.R.Antenatal diagnosis of intestinal malrotation on fetal MRI. Pediatr Radiol.2009; 39: 847–849.
3.
CassartM., MassezA., LingierP., AbsilA.S., DonnerC., AvniF.Sonographic prenatal diagnosis of malpositioned stomach as a feature of uncomplicated intestinal malrotation. Pediatr Radiol.2006; 36: 358–360.
4.
CohenMMJr.. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet.1993; 45: 300–307.
5.
CohenMMJr., KreiborgS.Visceral anomalies in the Apert syndrome. Am J Med Genet.1993; 45: 758–760.
HodachR.J., ViseskulC., GilbertE.F., HerrmannJ.P., WolfsonJ.J., KaveggiaE.G., OpitzJ.M.Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review. Z Kinderheilkd.1975; 119: 87–103.
8.
KodakaT., KanamoriY., SugiyamaM., HashizumeK.A case of acrocephalosyndactyly with low imperforate anus. J Pediatr Surg.2004; 39: E32–E34.
OliveiraN.A., AlonsoL.G., FanganielloR.D., Passos-BuenoM.R.Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol.2006; 76: 629–633.
11.
OyamadaM.K., FerreiraH.S., HoffM.Pfeiffer syndrome type 2—case report. Sao Paulo Med J.2003; 121: 176–179.
12.
PlompA.S., HamelB.C., CobbenJ.M., VerloesA., OffermansJ.P., LajeunieE., FrynsJ.P., de Die-SmuldersC.E.Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet.1998; 75: 245–251.
13.
RobinN.H., ScottJ.A., ArnoldJ.E., GoldsteinJ.A., ShillingB.B., MarionR.W., CohenMMJr.. Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification. Am J Med Genet.1998; 75: 240–244.
14.
TartagliaM., ValeriS., VelardiF., Di RoccoC., BattagliaP.A.Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet.1997; 99: 602–606.
15.
VeyracC., CoutureA., SaguintaahM., BaudC.MRI of fetal GI tract abnormalities. Abdom Imaging.2004; 29: 411–420.
