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Roberts syndrome or "X-linked amelia"?
Am J Med Genet. 1990 Dec; 37(4):569-72.AJ

Abstract

We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, "X-linked amelia" is proposed.

Authors+Show Affiliations

Department of Pediatrics, Rambam Medical Center, Haifa, Israel.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2260610

Citation

Gershoni-Baruch, R, et al. "Roberts Syndrome or "X-linked Amelia"?" American Journal of Medical Genetics, vol. 37, no. 4, 1990, pp. 569-72.
Gershoni-Baruch R, Drugan A, Bronshtein M, et al. Roberts syndrome or "X-linked amelia"? Am J Med Genet. 1990;37(4):569-72.
Gershoni-Baruch, R., Drugan, A., Bronshtein, M., & Zimmer, E. Z. (1990). Roberts syndrome or "X-linked amelia"? American Journal of Medical Genetics, 37(4), 569-72.
Gershoni-Baruch R, et al. Roberts Syndrome or "X-linked Amelia". Am J Med Genet. 1990;37(4):569-72. PubMed PMID: 2260610.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Roberts syndrome or "X-linked amelia"? AU - Gershoni-Baruch,R, AU - Drugan,A, AU - Bronshtein,M, AU - Zimmer,E Z, PY - 1990/12/1/pubmed PY - 1990/12/1/medline PY - 1990/12/1/entrez SP - 569 EP - 72 JF - American journal of medical genetics JO - Am J Med Genet VL - 37 IS - 4 N2 - We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, "X-linked amelia" is proposed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2260610/Roberts_syndrome_or_"X_linked_amelia" L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=37&issue=4&spage=569 DB - PRIME DP - Unbound Medicine ER -