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

Bozkaya Ö.

GENETIC COUNSELING, cilt.24, sa.4, ss.405-416, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 4
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.405-416
  • Anahtar Kelimeler: Dwarfism, Microcephaly, Fetal Growth Retardation
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.