Growth retardation, distinct oriental like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unkown entity

C. Dacou-Voutetakis, Euterpe Bazopoulou-Kyrkanidou, S. Kyrkanides, C. Pangalos, A. Apostolakis

Research output: Contribution to journalArticlepeer-review

Abstract

A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital ventricular septal defect, glaucoma, and speech disorder is reported. Routine laboratory tests, karyotype, and hormonal profile (IGF 1, growth hormone during provocative testing, thyroid hormones, prolactin, gonadotrophins) were normal. Radiologic skeletal survey did not disclose any abnormality. Both parents were apparently normal, but short in stature.

Original languageEnglish
Pages (from-to)245-250
Number of pages6
JournalGenetic Counseling
Volume10
Issue number3
StatePublished - 1999

Keywords

  • Dwarfism
  • Glaucoma
  • Multiple abnormalities
  • Oriental like face
  • Speech disorder
  • Ventricular septal defect

ASJC Scopus subject areas

  • Genetics(clinical)

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