Microcephaly with normal intelligence, and chorioretinopathy

Ophthalmic Genet. 1999 Dec;20(4):259-64. doi: 10.1076/opge.


An 18-year-old girl had microcephaly without mental or neurological disabilities. She had hypoplastic mandible, long cup-shaped ears, bilateral incurved little fingers, bilateral retinal pigmentation, and scattered areas of depigmentation as well as a history of osteochondroma. However, genetic test for mutation analysis of exon 15 of the APC gene showed negative results. To the best of our knowledge, this is the third case to be reported with microcephaly, normal intelligence, and bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE).

Publication types

  • Case Reports

MeSH terms

  • Adenomatous Polyposis Coli Protein
  • Adolescent
  • Choroid Diseases / complications*
  • Choroid Diseases / pathology
  • Cytoskeletal Proteins / genetics
  • Female
  • Humans
  • Hypertrophy / congenital
  • Intelligence
  • Microcephaly / complications*
  • Microcephaly / pathology
  • Pigment Epithelium of Eye / pathology
  • Retinal Diseases / complications*
  • Retinal Diseases / pathology


  • Adenomatous Polyposis Coli Protein
  • Cytoskeletal Proteins