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New form of postaxial acrofacial dysostosis?
Am J Med Genet. 1991 Dec 15; 41(4):438-43.AJ

Abstract

We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis.

Authors+Show Affiliations

Arens R
Department of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Reichman B
No affiliation info available
Katznelson MB
No affiliation info available
Goodman RM
No affiliation info available

MeSH

Abnormalities, MultipleConsanguinityDysostosesEar, ExternalFemaleHumansInfantLimb Deformities, CongenitalSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1776633

Citation

Arens, R, et al. "New Form of Postaxial Acrofacial Dysostosis?" American Journal of Medical Genetics, vol. 41, no. 4, 1991, pp. 438-43.
Arens R, Reichman B, Katznelson MB, et al. New form of postaxial acrofacial dysostosis? Am J Med Genet. 1991;41(4):438-43.
Arens, R., Reichman, B., Katznelson, M. B., & Goodman, R. M. (1991). New form of postaxial acrofacial dysostosis? American Journal of Medical Genetics, 41(4), 438-43.
Arens R, et al. New Form of Postaxial Acrofacial Dysostosis. Am J Med Genet. 1991 Dec 15;41(4):438-43. PubMed PMID: 1776633.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New form of postaxial acrofacial dysostosis? AU - Arens,R, AU - Reichman,B, AU - Katznelson,M B, AU - Goodman,R M, PY - 1991/12/15/pubmed PY - 1991/12/15/medline PY - 1991/12/15/entrez SP - 438 EP - 43 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 4 N2 - We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous. We assume this patient represents a new form of postaxial acrofacial dysostosis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1776633/New_form_of_postaxial_acrofacial_dysostosis DB - PRIME DP - Unbound Medicine ER -