Tags

Type your tag names separated by a space and hit enter

Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".
Genet Couns. 2013; 24(4):405-16.GC

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+Show Affiliations

Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Division of Genetics, Inciralti Izmir, Turkey. ozlem.giray@deu.edu.tr

Pub Type(s)

Case Reports
Historical Article
Journal Article

Language

eng

PubMed ID

24551984

Citation

Bozkaya, O Giray. "Microcephalic Osteodysplastic Primordial Dwarfism, With the Fascinating History of "Mademoiselle Crachami"." Genetic Counseling (Geneva, Switzerland), vol. 24, no. 4, 2013, pp. 405-16.
Bozkaya OG. Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami". Genet Couns. 2013;24(4):405-16.
Bozkaya, O. G. (2013). Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami". Genetic Counseling (Geneva, Switzerland), 24(4), 405-16.
Bozkaya OG. Microcephalic Osteodysplastic Primordial Dwarfism, With the Fascinating History of "Mademoiselle Crachami". Genet Couns. 2013;24(4):405-16. PubMed PMID: 24551984.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami". A1 - Bozkaya,O Giray, PY - 2014/2/21/entrez PY - 2014/2/21/pubmed PY - 2014/3/13/medline SP - 405 EP - 16 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 24 IS - 4 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/24551984/Microcephalic_osteodysplastic_primordial_dwarfism_with_the_fascinating_history_of_"Mademoiselle_Crachami"_ L2 - http://www.diseaseinfosearch.org/result/3882 DB - PRIME DP - Unbound Medicine ER -