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New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.
Am J Med Genet. 1992 Jul 01; 43(4):678-85.AJ

Abstract

Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested.

Authors+Show Affiliations

Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1621757

Citation

Borochowitz, Z, et al. "New Multiple Congenital Anomalies: Mental Retardation Syndrome (MCA/MR) With Facio-cutaneous-skeletal Involvement." American Journal of Medical Genetics, vol. 43, no. 4, 1992, pp. 678-85.
Borochowitz Z, Pavone L, Mazor G, et al. New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. Am J Med Genet. 1992;43(4):678-85.
Borochowitz, Z., Pavone, L., Mazor, G., Rizzo, R., & Dar, H. (1992). New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. American Journal of Medical Genetics, 43(4), 678-85.
Borochowitz Z, et al. New Multiple Congenital Anomalies: Mental Retardation Syndrome (MCA/MR) With Facio-cutaneous-skeletal Involvement. Am J Med Genet. 1992 Jul 1;43(4):678-85. PubMed PMID: 1621757.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. AU - Borochowitz,Z, AU - Pavone,L, AU - Mazor,G, AU - Rizzo,R, AU - Dar,H, PY - 1992/7/1/pubmed PY - 1992/7/1/medline PY - 1992/7/1/entrez SP - 678 EP - 85 JF - American journal of medical genetics JO - Am J Med Genet VL - 43 IS - 4 N2 - Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1621757/New_multiple_congenital_anomalies:_mental_retardation_syndrome__MCA/MR__with_facio_cutaneous_skeletal_involvement_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=43&issue=4&spage=678 DB - PRIME DP - Unbound Medicine ER -