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Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3.
Am J Med Genet. 1993 Mar 15; 45(6):745-50.AJ

Abstract

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 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.

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Publisher Full Text

Authors+Show Affiliations

Barone CM
University of Missouri Hospital and Clinics, Division of Plastic Surgery, Columbia 65212.
Marion R
No affiliation info available
Shanske A
No affiliation info available
Argamaso RV
No affiliation info available
Shprintzen RJ
No affiliation info available

MeSH

AbdomenAbnormalities, MultipleFacial BonesHumansInfantInfant, NewbornIntestinesLimb Deformities, CongenitalMalePrune Belly SyndromeSkullSyndrome

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8456855

Citation

Barone, C M., et al. "Craniofacial, Limb, and Abdominal Anomalies in a Distinct Syndrome: Relation to the Spectrum of Pfeiffer Syndrome Type 3." American Journal of Medical Genetics, vol. 45, no. 6, 1993, pp. 745-50.
Barone CM, Marion R, Shanske A, et al. Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. Am J Med Genet. 1993;45(6):745-50.
Barone, C. M., Marion, R., Shanske, A., Argamaso, R. V., & Shprintzen, R. J. (1993). Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. American Journal of Medical Genetics, 45(6), 745-50.
Barone CM, et al. Craniofacial, Limb, and Abdominal Anomalies in a Distinct Syndrome: Relation to the Spectrum of Pfeiffer Syndrome Type 3. Am J Med Genet. 1993 Mar 15;45(6):745-50. PubMed PMID: 8456855.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. AU - Barone,C M, AU - Marion,R, AU - Shanske,A, AU - Argamaso,R V, AU - Shprintzen,R J, PY - 1993/3/15/pubmed PY - 1993/3/15/medline PY - 1993/3/15/entrez SP - 745 EP - 50 JF - American journal of medical genetics JO - Am J Med Genet VL - 45 IS - 6 N2 - 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 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8456855/Craniofacial_limb_and_abdominal_anomalies_in_a_distinct_syndrome:_relation_to_the_spectrum_of_Pfeiffer_syndrome_type_3_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=6&spage=745 DB - PRIME DP - Unbound Medicine ER -