2010, Number 2
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Rev Cub Gen 2010; 4 (2)
Achromesomelic Dysplasia: Report of two cases
Licourt OD, Menéndez GR, Reyes PLM
Language: Spanish
References: 9
Page: 55-58
PDF size: 437.28 Kb.
ABSTRACT
Acromesomelic dysplasia is a very rare inherited osteochondrodysplasia
that presents an autosomal recessive
pattern, first described in 1971. Two cases were observed
at clinical examination presenting severe dwarfism with
shortening of the middle and distal segments of the limbs.
Radiographic findings showed multiple osseous disorders;
among them the shortening of the large bones, mainly the
middle segments as well as vertebral and pelvic abnormalities.
Facial appearance and intelligence of the individuals
are normal with no major complications on the course of
the disease. A medical literature review about the topic was
performed and the diagnosis of the affection was confirmed
in order to establish an adequate genetic advice.
REFERENCES
Rimoin D, Lachman R, Unger S. Principles and Practice of Medical Genetics. 4th ed. United Kingdom: Churchill Livingstone; 2002.
Acromesomelic dysplasia, Maroteaux type; AMDM OMIM #602875. On line mendelian inheritance in man: Disponible en: http: //www.ncbi.nim.nlh.gov/OMIM, (fecha de acceso Diciembre 2008).
Kang MH. Proteins in an Acromesomelic Dwarfism Disorder. Clinical Genetics. 2009;75(6):523-5.
Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G et al. Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping. Clin Genet. 2000;57:278–83.
Smith DW. Patrones reconocibles de malformaciones humanas. 6ta ed. España: Elsevier; 2007.
Faiyaz M, Faqeih E, Zaidan H, Shammary A, Syed H. Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. J Bone Miner Metab. 2008;26:648–52.
Langer J, Beals K, Solomon I , Bard P, Bard L, Rissman E. Acromesomelic dwarfism: Manifestations in childhood. American Journal of Medical Genetics. 2005;1(1):87-100.
Fernández M, Jiménez S, González J, Vicario R. Acromesomelic dysplasia: Radiologic, clinical, and pathological study. American Journal of Medical Genetics. 2005;33(3):415-9.
Maroteaux P, Martinelli B, Campailla E. Le nanismme acromesomelique. Press Med. 1971;79:1839.
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