Tags

Type your tag names separated by a space and hit enter

New autosomal recessive form of amelia.
Am J Med Genet. 1995 Mar 27; 56(2):164-7.AJ

Abstract

Amelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs. The fetuses also had minor facial anomalies. Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs.

Authors+Show Affiliations

Department of Pediatrics, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

7625439

Citation

Michaud, J, et al. "New Autosomal Recessive Form of Amelia." American Journal of Medical Genetics, vol. 56, no. 2, 1995, pp. 164-7.
Michaud J, Filiatrault D, Dallaire L, et al. New autosomal recessive form of amelia. Am J Med Genet. 1995;56(2):164-7.
Michaud, J., Filiatrault, D., Dallaire, L., & Lambert, M. (1995). New autosomal recessive form of amelia. American Journal of Medical Genetics, 56(2), 164-7.
Michaud J, et al. New Autosomal Recessive Form of Amelia. Am J Med Genet. 1995 Mar 27;56(2):164-7. PubMed PMID: 7625439.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New autosomal recessive form of amelia. AU - Michaud,J, AU - Filiatrault,D, AU - Dallaire,L, AU - Lambert,M, PY - 1995/3/27/pubmed PY - 1995/3/27/medline PY - 1995/3/27/entrez SP - 164 EP - 7 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 56 IS - 2 N2 - Amelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs. The fetuses also had minor facial anomalies. Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7625439/New_autosomal_recessive_form_of_amelia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=56&issue=2&spage=164 DB - PRIME DP - Unbound Medicine ER -