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New acrofacial dysostosis syndrome in 3 sibs.
Am J Med Genet. 1990 Apr; 35(4):484-9.AJ

Abstract

We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.

Authors+Show Affiliations

Department of Pathology, Hospital La Paz, Madrid, Spain.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

2333875

Citation

Rodríguez, J I., et al. "New Acrofacial Dysostosis Syndrome in 3 Sibs." American Journal of Medical Genetics, vol. 35, no. 4, 1990, pp. 484-9.
Rodríguez JI, Palacios J, Urioste M. New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet. 1990;35(4):484-9.
Rodríguez, J. I., Palacios, J., & Urioste, M. (1990). New acrofacial dysostosis syndrome in 3 sibs. American Journal of Medical Genetics, 35(4), 484-9.
Rodríguez JI, Palacios J, Urioste M. New Acrofacial Dysostosis Syndrome in 3 Sibs. Am J Med Genet. 1990;35(4):484-9. PubMed PMID: 2333875.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New acrofacial dysostosis syndrome in 3 sibs. AU - Rodríguez,J I, AU - Palacios,J, AU - Urioste,M, PY - 1990/4/1/pubmed PY - 1990/4/1/medline PY - 1990/4/1/entrez SP - 484 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 35 IS - 4 N2 - We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2333875/New_acrofacial_dysostosis_syndrome_in_3_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=35&issue=4&spage=484 DB - PRIME DP - Unbound Medicine ER -