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ISSN 1684-1824 (Electronic)

2017, Number 1

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Rev Méd Electrón 2017; 39 (1)

Phenotypical characterization of the Aarskog’s Syndrome

Santana HEE, Márquez IN, Llauradó RRA

Language: Spanish
References: 11
Page: 101-109
PDF size: 223.03 Kb.


ABSTRACT

Introduction: Aarskog's syndrome is a genetic disease with variable manifestation, characterized by growth retardation, typical facial features, short hand and feet, intellectual disability and genital anomalies. It was described a pattern of recessive inheritance linked to X chromosome, with partial expression in women. Cases with dominanta autosomal transmission have been reported.
Objective: describing the phenotypical characteristics of ten patients with Aarskog's syndrome diagnosis, found as much in female as in male patients.
Materials and methods: we carried out a descriptive, retrospective study, from January to December 2015, with a sample formed by ten patients from Urbano Noris Municipality, province of Holguin.
Results: the most frequent facial characteristics were wide nasal bridge (90 %), anteverted nares (40 %), long philtrum (90 %), with thick lips (60 %) and palpebral fissures down (90 %), followed by hypertelorism and thick eyebrows in a 70 %; brachydactyly was the most common alteration of the limbs (70 %) and membranous syndactyly (80 %), accompanied by mild intellectual disability in 80 %.
Conclusions: the patients showed variability of the clinical expression, found as much in female as in male ones; the phenotypical differences may be explained by the syndrome´s genetic heterogeneity. There are not still in the country molecular researches allowing the genotypic characterization of these patients.


REFERENCES

  1. 1- Griffin LB, Farley FA, Antonellis A, Keegan CE. A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures. Cold Spring Harb Mol Case Stud [Internet]. 2016 Jul [citado 7 Oct 2016];2(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/27551683

  2. 2- Parıltay E, Hazan F, Ataman E, et al. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. J Pediatr Endocrinol Metab [Internet]. 2016 Sep 1 [citado 7 Oct 2016];29(9):1111-4. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/27544718

  3. 3- Pérez-Coria M, Lugo-Trampe JJ, Zamudio-Osuna M, et al. Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome. Mol Genet Genomic Med [Internet]. 2015 May [citado 7 Oct 2016];3(3):197-202. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/26029706

  4. 4- Trevizol AP, Sato IA, Dias DR, et al. Aarskog-Scott syndrome presenting with psychosis: A case study. Schizophr Res [Internet]. 2015 Jun [citado 7 Oct 2016];165(1):108-9. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25911513

  5. 5- Orrico A, Galli L, Clayton-Smith J, et al. Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) Eur J Hum Genet [Internet]. 2015 Apr [citado 20 Sep 2016];23(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25227149

  6. 6- Völter C, Martínez R, Hagen R, et al. Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. Eur J Pediatr [Internet]. 2014 Oct [citado 18 Sep 2016];173(10):1373-6. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24770546

  7. 7- Şıklar Z, Berberoğlu M. Syndromic disorders with short stature. J Clin Res Pediatr Endocrinol [Internet]. 2014 [citado 18 Sep 2016];6(1):1-8. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24637303

  8. 8- Li JL, Li YJ, Zhang KJ, et al. No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area. Genet Mol Res [Internet]. 2014 Jan 10 [citado 18 Sep 2016];13(1):127-33. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24446295

  9. 9- Shanavas M, Chatra L, Shenai P, et al. Aarskog-Scott syndrome. J Coll Physicians Surg Pak [Internet]. 2013 May [citado 18 Sep 2016];23(5):378-80. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23673187

  10. 10- Altıncık A, Kaname T, Demir K, et al. A novel mutation in a mother and a son with Aarskog-Scott syndrome. J Pediatr Endocrinol Metab [Internet]. 2013 [citado 18 Sep 2016];26(3-4):385-8. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23443263

  11. 11- Aten E, Sun Y, Almomani R, et al. Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Hum Mutat [Internet]. 2013 Mar [citado 18 Sep 2016];34(3):430-4. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23169394




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