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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.

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Authors+Show Affiliations

Borochowitz Z
Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.
Pavone L
No affiliation info available
Mazor G
No affiliation info available
Rizzo R
No affiliation info available
Dar H
No affiliation info available

MeSH

Abnormalities, MultipleBehaviorBone and BonesConsanguinityFaceFemaleFollow-Up StudiesGenes, RecessiveHumansInfant, NewbornIntellectual DisabilityMaleSkin AbnormalitiesSyndrome

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 -