2015, Number 2
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Acta Med Cent 2015; 9 (2)
Variable expressivity in acrocephalosyndactyly syndrome type I. A report of two patients
Taboada LN, Montecinos ZNV, González HK
Language: Spanish
References: 10
Page: 41-45
PDF size: 178.74 Kb.
ABSTRACT
Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet. Most cases of Apert syndrome are sporadic, due to new mutations in the receptor gene 2 of fibroblast growth factor, whose locus is located on the long arm of chromosome 10. The estimated frequency of this syndrome is from one in 160 000 births. Two patients with clinical diagnosis of Apert syndrome is presented and a detailed phenotypic delineation is performed to demonstrate the variability in expression of the clinical phenotype: one male of two years old and a female of four years old, both cases were sporadic and they were not associated with advanced paternal age. The clinical manifestations of the two patients confirm the variable expression of the syndrome with phenotypic characteristic manifestations: secondary acrocephaly to craniosynostosis and syndactyly of hands and feet present in both cases together with cleft palate in one case and kyphosis, light reduced visual and auditory acuity, as well as moderate intellectual disabilities, on the other.
REFERENCES
Apert syndrome. Online Mendelian Inheritance in Man (OMIM) [Internet]. 2013 [actualizado 18 Jun 2013; citado 5 Jul 2014]. Disponible en: http://www.omim.org/entry/101200?search=101200&highlight=101200
Sorolla P. Anomalías cráneo faciales. Rev Med Clín CONDES [Internet]. 2010 [citado 5 Jul 2014];21(1):5-15. Disponible en: www.elsevier.es/es-revista-revista-medica-clinica-las-condes-202-pdf-9036
Ruíz CR, Guerra DL. Síndrome de Apert [Internet]. Madrid: Asociación Síndrome de Apert; 2013 [citado 5 Jul 2014]. Disponible en: http://www.feaps.org/biblioteca/sindromes_y_apoyos/capitulo10.pdf
Yaghoobi R, Bagherani N, Tajalli M, Paziar N. Apert syndrome. Indian J Dermatol Venereol Leprol. 2010 Nov-Dec;76(6):724. doi: 10.4103/0378-6323.72479.
Saritha S, Sumangala G, Supriya M, Praveen K. Apert syndrome (Acrocephalosyndactyly): a case report. Int J Res Med Sci. 2013;1(1):36-40. doi:10.5455/2320-6012.ijrms20130210
Yoon SR, Qin J, Glaser RL, Wang JE, Wexler NS. The ups and downs of mutation frequencies during aging can account for the Apert Syndrome Paternal Age Effect. PLoS Genet. 2009 Jul;5(7):e1000558. doi: 10.1371/journal.pgen.1000558. Epub 2009 Jul 10.
Moloney DM, Slaney F, Oldrige M, Wall SA, Sahlin P, Stenman G, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996 May;13(1):48-53.
Britto JA, Chan C, Evans R, Hayward R, Jones B. Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis. Plast Reconstr Surg. 2005;107(6):1331–38.
Fearon JA, Podner C. Apert syndrome: evaluation of a treatment algorithm. Plast Reconstr Surg. 2013 Jan;131(1):132-42. doi: 10.1097/PRS.0b013e3182729f42.
10.Lyon JK. Smith´s recognizable patterns of human malformations. 6th ed. Philadelphia: Elsevier Saunders; 2006.