title: Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".
abstract: 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.
authors.affiliation: Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Division of Genetics, Inciralti Izmir, Turkey. ozlem.giray@deu.edu.tr
authors.forename: O Giray
authors.initials: OG
authors.lastname: Bozkaya
mesh_terms: D000015:Abnormalities, Multiple / Q000266:history*; D002648:Child; D025063:Chromosome Disorders / Q000266:history; D004392:Dwarfism / Q000266:history*; D005260:Female; D049672:History, 19th Century; D006801:Humans; D008831:Microcephaly / Q000266:history*; D010009:Osteochondrodysplasias / Q000266:history*; D013577:Syndrome