Microcephaly with normal intelligence, and chorioretinopathy

Ghada M H Abdel-Salam, Gábor Vogt, Adrienne Halász, E. Czeizel

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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).

Original languageEnglish
Pages (from-to)259-264
Number of pages6
JournalOphthalmic Genetics
Volume20
Issue number4
Publication statusPublished - 1999

Fingerprint

Microcephaly
Intelligence
Osteochondroma
APC Genes
Retinal Pigment Epithelium
Pigmentation
Mandible
Hypertrophy
Fingers
Ear
Exons
Mutation

Keywords

  • Congenital hypertrophy
  • Gardner's syndrome
  • Microcephaly
  • Normal intelligence
  • Of retinal pigment epithelium

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Abdel-Salam, G. M. H., Vogt, G., Halász, A., & Czeizel, E. (1999). Microcephaly with normal intelligence, and chorioretinopathy. Ophthalmic Genetics, 20(4), 259-264.

Microcephaly with normal intelligence, and chorioretinopathy. / Abdel-Salam, Ghada M H; Vogt, Gábor; Halász, Adrienne; Czeizel, E.

In: Ophthalmic Genetics, Vol. 20, No. 4, 1999, p. 259-264.

Research output: Contribution to journalArticle

Abdel-Salam, GMH, Vogt, G, Halász, A & Czeizel, E 1999, 'Microcephaly with normal intelligence, and chorioretinopathy', Ophthalmic Genetics, vol. 20, no. 4, pp. 259-264.
Abdel-Salam, Ghada M H ; Vogt, Gábor ; Halász, Adrienne ; Czeizel, E. / Microcephaly with normal intelligence, and chorioretinopathy. In: Ophthalmic Genetics. 1999 ; Vol. 20, No. 4. pp. 259-264.
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