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2013, Number 2

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Rev Cub Gen 2013; 7 (2)

Apert syndrome: A case report

González AAM, del Cerro JL, Alvarez OJ, Warner VO, Santana HEE, Cardet EM

Language: Spanish
References: 25
Page: 42-46
PDF size: 400.28 Kb.


ABSTRACT

The Apert acrocephalosyndactyly type I syndrome, is a genetic disease characterized by craniosynostosis, symmetrical syndactyly in the four limbs, maxillofacial and cutaneous alterations, and variable mental retardation. It is caused by mutations in the fibroblastic growth gen (FGFR2) receptor, located in the long arm of chromosome 10. A male, 2 months old, Caucasian nursling having the previously mentioned characteristics that was diagnosed this disease is described. A chromosomal study was carried out considering the possibility of visible chromosomal anomalies by means of conventional cytogenetic techniques. Knowing and identifying the clinical signs of this little known syndrome is important for its diagnosis, early rehabilitation and to supply genetic counseling to the family.


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