Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?

Am J Med Genet. 1994 Jan 1;49(1):91-3. doi: 10.1002/ajmg.1320490117.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Face / abnormalities*
  • Female
  • Hip Dislocation, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics*
  • Phenotype
  • Psychomotor Disorders / genetics
  • Scoliosis / genetics
  • Somatotypes / genetics*