Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3

C. M. Barone, R. Marion, A. Shanske, R. V. Argamaso, R. J. Shprintzen

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12 Scopus citations


Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly of toes 2-5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity.

Original languageEnglish (US)
Pages (from-to)745-750
Number of pages6
JournalAmerican journal of medical genetics
Issue number6
Publication statusPublished - Jan 1 1993
Externally publishedYes



  • Pfeiffer syndrome
  • craniosynostosis
  • intestinal malrotation
  • limb abnormality
  • prune belly
  • type 3

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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