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Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?
Am J Med Genet. 1994 Jan 01; 49(1):91-3.AJ

Abstract

Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxillary hypoplasia, large mouth with down-turned corners, short philtrum and everted lower lip, associated with a remarkable ectomorphic habitus.

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Authors+Show Affiliations

Fryns JP
Center for Human Genetics, University of Leuven, Belgium.
Smeets E
No affiliation info available
Thiry P
No affiliation info available
Geutjens J
No affiliation info available
Vinken L
No affiliation info available
Van den Berghe H
No affiliation info available

MeSH

Abnormalities, MultipleAdultFaceFemaleHip Dislocation, CongenitalHumansIntellectual DisabilityPhenotypePsychomotor DisordersScoliosisSomatotypes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8172258

Citation

Fryns, J P., et al. "Ectomorphic Habitus, Severe Mental Retardation and Characteristic Face: a New MCA/MR Syndrome?" American Journal of Medical Genetics, vol. 49, no. 1, 1994, pp. 91-3.
Fryns JP, Smeets E, Thiry P, et al. Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome? Am J Med Genet. 1994;49(1):91-3.
Fryns, J. P., Smeets, E., Thiry, P., Geutjens, J., Vinken, L., & Van den Berghe, H. (1994). Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome? American Journal of Medical Genetics, 49(1), 91-3.
Fryns JP, et al. Ectomorphic Habitus, Severe Mental Retardation and Characteristic Face: a New MCA/MR Syndrome. Am J Med Genet. 1994 Jan 1;49(1):91-3. PubMed PMID: 8172258.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome? AU - Fryns,J P, AU - Smeets,E, AU - Thiry,P, AU - Geutjens,J, AU - Vinken,L, AU - Van den Berghe,H, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 91 EP - 3 JF - American journal of medical genetics JO - Am J Med Genet VL - 49 IS - 1 N2 - Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxillary hypoplasia, large mouth with down-turned corners, short philtrum and everted lower lip, associated with a remarkable ectomorphic habitus. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8172258/Ectomorphic_habitus_severe_mental_retardation_and_characteristic_face:_a_new_MCA/MR_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=49&issue=1&spage=91 DB - PRIME DP - Unbound Medicine ER -