Tags

Type your tag names separated by a space and hit enter

Acrofacial dysostosis with severe facial clefting and limb reduction.
Am J Med Genet. 1984 Mar; 17(3):641-7.AJ

Abstract

We describe two unrelated patients with a severe form of acrofacial dysostosis. Facial defects in both include coloboma of the lids, micrognathia, lateral oral clefting, palatal clefting, and severe auricular anomalies, with one showing bilateral cleft lip and right oblique facial clefting as well. Both have absent forearms and thumbs. Lower limbs were severely reduced in both infants with the feet attached either to the femur or directly to the trunk. Parental consanguinity was present in one case. The condition in these two infants appears to represent either a severe form of Nager acrofacial dysostosis or a new type of acrofacial dysostosis.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6711616

Citation

Kawira, E L., et al. "Acrofacial Dysostosis With Severe Facial Clefting and Limb Reduction." American Journal of Medical Genetics, vol. 17, no. 3, 1984, pp. 641-7.
Kawira EL, Weaver DD, Bender HA. Acrofacial dysostosis with severe facial clefting and limb reduction. Am J Med Genet. 1984;17(3):641-7.
Kawira, E. L., Weaver, D. D., & Bender, H. A. (1984). Acrofacial dysostosis with severe facial clefting and limb reduction. American Journal of Medical Genetics, 17(3), 641-7.
Kawira EL, Weaver DD, Bender HA. Acrofacial Dysostosis With Severe Facial Clefting and Limb Reduction. Am J Med Genet. 1984;17(3):641-7. PubMed PMID: 6711616.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acrofacial dysostosis with severe facial clefting and limb reduction. AU - Kawira,E L, AU - Weaver,D D, AU - Bender,H A, PY - 1984/3/1/pubmed PY - 1984/3/1/medline PY - 1984/3/1/entrez SP - 641 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 3 N2 - We describe two unrelated patients with a severe form of acrofacial dysostosis. Facial defects in both include coloboma of the lids, micrognathia, lateral oral clefting, palatal clefting, and severe auricular anomalies, with one showing bilateral cleft lip and right oblique facial clefting as well. Both have absent forearms and thumbs. Lower limbs were severely reduced in both infants with the feet attached either to the femur or directly to the trunk. Parental consanguinity was present in one case. The condition in these two infants appears to represent either a severe form of Nager acrofacial dysostosis or a new type of acrofacial dysostosis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6711616/Acrofacial_dysostosis_with_severe_facial_clefting_and_limb_reduction_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=3&spage=641 DB - PRIME DP - Unbound Medicine ER -