title: Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?
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.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: E
authors.initials: E
authors.lastname: Smeets
authors.forename: P
authors.initials: P
authors.lastname: Thiry
authors.forename: J
authors.initials: J
authors.lastname: Geutjens
authors.forename: L
authors.initials: L
authors.lastname: Vinken
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics; D012600:Scoliosis / Q000235:genetics; D013008:Somatotypes / Q000235:genetics*