MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, WITH THE FASCINATING HISTORY OF "MADEMOISELLE CRACHAMI"

Bozkaya Ö.

GENETIC COUNSELING, vol.24, no.4, pp.405-416, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 4
  • Publication Date: 2013
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.405-416
  • Keywords: Dwarfism, Microcephaly, Fetal Growth Retardation, II MOPD-II, SEVERE MICRODONTIA, MOYAMOYA-DISEASE, SECKEL-SYNDROME, SHORT STATURE, PCNT GENE, PERICENTRIN, MUTATIONS, DISORDER, TEETH
  • Dokuz Eylül University Affiliated: Yes

Abstract

Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami": This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOPD is a group of primordial dwarfism syndromes with prenatal onset growth retardation, a typical craniofacial appearance and behavioral phenotype. In 1959, Mann and Russell have described the first case in a detailed report, and named "microcephalic midget of extreme type". In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case.