eSanatos - sanatatea ta e preocuparea noastra!
    Cauta in site
NutritieBoli
                 Home | Creeaza cont nou | Login membri


Diseases

NAVIGARE RAPIDA: » Pagina principala » GHID MEDICAL » termeni medicali » diseases

Craniocleidodysostosis syndrome (cleidocranial dysostosis syndrome; marie-sainton syndrome; scheuthaurer syndrome; hulkcrantz anosteoplasia; mutational dysostosis syndrome)  311


Craniocleidodysostosis Syndrome (Cleidocranial Dysostosis Syndrome; Marie-Sainton Syndrome; Scheuthaurer Syndrome; Hulkcrantz Anosteoplasia; Mutational Dysostosis Syndrome)   &nbs 828j92i p;   &nbs 828j92i p;   &nbs 828j92i p;   &nbs 828j92i p;  311

General: Autosomal dominant; hypoplastic dysostosis of the skull; shows brachycephaly or platycephaly.

Ocular: Proptosis (unilateral); prominent orbital ridges; greater vertical diameter of the orbit ed with horizontal diameter; hypertelorism; antimongoloid palpebral fissure.

Clinical: Saddle nose; prominent forehead (frontal bossing); hypoplasia of facial bones and clavicles; high arched palate and protruding jaw; oligodontia; pathologic fractures; hyperlaxia of joints; kyphoscoliosis and spina bifida; scoliosis; hemiplegia; spastic paraplegia; mental deficiency; psychosis; incomplete closure of fontanelles; dwarfism; epilepsy; hypoplasia/aplasia of nasal bones; high and narrow orbital opening; absent or diminished paranasal sinuses; small sella; skeletal immaturity due to defect in bone remodeling.



Gorlin RJ, Cervenka J. Syndrome of facial clefting. Scand J Plast Reconstr Surg 1974; 8: 13-25.

Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994; 14: 163-l76.

Marie P, Sainton P. Sur la Dysostose Cleido-Cranienne Hereditaire. Bull Soc Med Hop Paris 1898; 15:436.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.




Alte materiale medicale despre: diseases




Apert Syndrome (Acrocephalosyndactylism Syndrome; Acrocranio-dysphalangia; Acrodysplasia; Sphenoacrocranio-syndactyly; Absent-Digits-Cranial-Defects [...]
Blastomycosis    [...]
Beta-Glucuronidase Deficiency (Mucopolysaccharidosis VII; MPS VII)  [...]


});

Copyright © 2010 - 2024 : eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii -
Confidentialitatea datelor - Contact



Despre diseases

    Alte sectiuni


    Ai o problema medicala?
    Daca vrei raspunsuri scrie intrebarea mai jos:

    Unde se incadreaza problema medicala?

    Scrie codul din imaginea alaturat



    Vezi toate intrebarile