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.
Links
MeSH
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 -