Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?
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.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Smeets
E
E
Thiry
P
P
Geutjens
J
J
Vinken
L
L
Van den Berghe
H
H
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*