| Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. | |
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MedLine Citation:
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PMID: 8456855 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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C M Barone; R Marion; A Shanske; R V Argamaso; R J Shprintzen |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 45 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Mar |
Date Detail:
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Created Date: 1993-04-22 Completed Date: 1993-04-22 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 745-50 Citation Subset: IM |
Affiliation:
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University of Missouri Hospital and Clinics, Division of Plastic Surgery, Columbia 65212. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abdomen
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abnormalities* Abnormalities, Multiple / genetics* Facial Bones / abnormalities* Humans Infant Infant, Newborn Intestines / abnormalities Limb Deformities, Congenital* Male Prune Belly Syndrome / genetics Skull / abnormalities* Syndrome |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 1994 Feb 1;49(3):357-9
[PMID:
8054032
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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