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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.

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Publisher Full Text

Authors

Malpuech G
No affiliation info available
Demeocq F
No affiliation info available
Palcoux JB
No affiliation info available
Vanlieferinghen P
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolCleft LipCleft PalateDwarfismFemaleGenes, RecessiveHumansIntellectual DisabilityMalePedigreeRomaSyndromeUrogenital Abnormalities

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 -