Tags

Type your tag names separated by a space and hit enter

Atypical acrofacial dysostosis syndrome.
Am J Med Genet. 1994 May 15; 51(1):32-4.AJ

Abstract

We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern represents either a blastogenesis-related association, or a microgastria-limb deficiency polytopic field defect.

Authors+Show Affiliations

Department of Human Genetics and Developmental Biology, University of Pretoria, Republic of South Africa.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8030666

Citation

Christianson, A L., et al. "Atypical Acrofacial Dysostosis Syndrome." American Journal of Medical Genetics, vol. 51, no. 1, 1994, pp. 32-4.
Christianson AL, Kruger H, Dini L. Atypical acrofacial dysostosis syndrome. Am J Med Genet. 1994;51(1):32-4.
Christianson, A. L., Kruger, H., & Dini, L. (1994). Atypical acrofacial dysostosis syndrome. American Journal of Medical Genetics, 51(1), 32-4.
Christianson AL, Kruger H, Dini L. Atypical Acrofacial Dysostosis Syndrome. Am J Med Genet. 1994 May 15;51(1):32-4. PubMed PMID: 8030666.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Atypical acrofacial dysostosis syndrome. AU - Christianson,A L, AU - Kruger,H, AU - Dini,L, PY - 1994/5/15/pubmed PY - 1994/5/15/medline PY - 1994/5/15/entrez SP - 32 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 51 IS - 1 N2 - We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern represents either a blastogenesis-related association, or a microgastria-limb deficiency polytopic field defect. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8030666/Atypical_acrofacial_dysostosis_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=51&issue=1&spage=32 DB - PRIME DP - Unbound Medicine ER -