A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.Am J Med Genet. 1983 Dec; 16(4):475-80.AJ
Abstract
In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
6660246
Citation
Malpuech, G, et al. "A Previously Undescribed Autosomal Recessive Multiple Congenital Anomalies/mental Retardation (MCA/MR) Syndrome With Growth Failure, Lip/palate Cleft(s), and Urogenital Anomalies." American Journal of Medical Genetics, vol. 16, no. 4, 1983, pp. 475-80.
Malpuech G, Demeocq F, Palcoux JB, et al. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Am J Med Genet. 1983;16(4):475-80.
Malpuech, G., Demeocq, F., Palcoux, J. B., & Vanlieferinghen, P. (1983). A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. American Journal of Medical Genetics, 16(4), 475-80.
Malpuech G, et al. A Previously Undescribed Autosomal Recessive Multiple Congenital Anomalies/mental Retardation (MCA/MR) Syndrome With Growth Failure, Lip/palate Cleft(s), and Urogenital Anomalies. Am J Med Genet. 1983;16(4):475-80. PubMed PMID: 6660246.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.
AU - Malpuech,G,
AU - Demeocq,F,
AU - Palcoux,J B,
AU - Vanlieferinghen,P,
PY - 1983/12/1/pubmed
PY - 1983/12/1/medline
PY - 1983/12/1/entrez
SP - 475
EP - 80
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 16
IS - 4
N2 - In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/6660246/A_previously_undescribed_autosomal_recessive_multiple_congenital_anomalies/mental_retardation__MCA/MR__syndrome_with_growth_failure_lip/palate_cleft_s__and_urogenital_anomalies_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=16&issue=4&spage=475
DB - PRIME
DP - Unbound Medicine
ER -