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>Journals >Revista Médica MD >Year 2018, Issue 1


Chaib-Saavedra SO, Delgadillo-Navarro JA, González-González JA, Navarro-Meza MC, Orozco-Chávez E
Crouzon Syndrome
Rev Med MD 2018; 9.10 (1)

Language: Español
References: 11
Page: 60-63
PDF: 574.68 Kb.


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ABSTRACT

The Crouzon syndrome was described in 1912. It has been reported with an incidence of 1 in 25,000 births and represents 4.8% of craneosinostosis. It is an autosomic dominant genetic disorder, which is characterized by an early fussion of the coronal and sagital sutures. The most affected cromosomic position is 10q25-10q26 of the FGFR2 gene. We present a family case with history of Crouzon syndrome in three of its members; grandmother, mother and daughter.


Key words: Craniosynostosis, Crouzon, FGFR2 gene, genetic mutation, locus 10q26.


REFERENCIAS

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>Journals >Revista Médica MD >Year 2018, Issue 1
 

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