New form of postaxial acrofacial dysostosis?

Raanan Arens, B. Reichman, M. B M Katznelson, R. M. Goodman

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)438-443
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume41
Issue number4
StatePublished - 1991
Externally publishedYes

Fingerprint

Extremities
Parents
Genee-Wiedemann syndrome

Keywords

  • birth defects
  • limb deficiency
  • postaxial deficiency syndromes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Arens, R., Reichman, B., Katznelson, M. B. M., & Goodman, R. M. (1991). New form of postaxial acrofacial dysostosis? American Journal of Medical Genetics, 41(4), 438-443.

New form of postaxial acrofacial dysostosis? / Arens, Raanan; Reichman, B.; Katznelson, M. B M; Goodman, R. M.

In: American Journal of Medical Genetics, Vol. 41, No. 4, 1991, p. 438-443.

Research output: Contribution to journalArticle

Arens, R, Reichman, B, Katznelson, MBM & Goodman, RM 1991, 'New form of postaxial acrofacial dysostosis?', American Journal of Medical Genetics, vol. 41, no. 4, pp. 438-443.
Arens R, Reichman B, Katznelson MBM, Goodman RM. New form of postaxial acrofacial dysostosis? American Journal of Medical Genetics. 1991;41(4):438-443.
Arens, Raanan ; Reichman, B. ; Katznelson, M. B M ; Goodman, R. M. / New form of postaxial acrofacial dysostosis?. In: American Journal of Medical Genetics. 1991 ; Vol. 41, No. 4. pp. 438-443.
@article{e8e83b69692e4e2a9f08942b9f168d9d,
title = "New form of postaxial acrofacial dysostosis?",
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.",
keywords = "birth defects, limb deficiency, postaxial deficiency syndromes",
author = "Raanan Arens and B. Reichman and Katznelson, {M. B M} and Goodman, {R. M.}",
year = "1991",
language = "English (US)",
volume = "41",
pages = "438--443",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - New form of postaxial acrofacial dysostosis?

AU - Arens, Raanan

AU - Reichman, B.

AU - Katznelson, M. B M

AU - Goodman, R. M.

PY - 1991

Y1 - 1991

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.

AB - 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.

KW - birth defects

KW - limb deficiency

KW - postaxial deficiency syndromes

UR - http://www.scopus.com/inward/record.url?scp=0025747904&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025747904&partnerID=8YFLogxK

M3 - Article

C2 - 1776633

AN - SCOPUS:0025747904

VL - 41

SP - 438

EP - 443

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 4

ER -