- Case report on Costello syndrome in child
Case report on Costello syndrome in child
PERINATOLOGIYA I PEDIATRIYA. 2014. 3(59):82–85
Case report on Costello syndrome in child
Zubova G. O., Yerokhina O. I., Sulzhenko M. Yu.
SI "Lugansk State Medical University", Lugansk, Ukraine
In the article a rare syndrome in the child of early age is described. The authors give the data available in the literature and their clinical observation of a child with Costello syndrome. The extremely rare genetic syndrome is characterized by persistent dysphagia that requires tube insertion or gastrostomy, by postnatal growth retardation, characteristic facial features; hyperrugosity of the skin; deep skin folds on the palms and soles, skin hyperpigmentation, papillomas of the nasal vestibule and around the mouth, and intellectual retardation. The diagnostic aspects of this pathology are considered.
Key words: Costello syndrome, children.
REFERENCES
1. Васина ТН, Зубцова ТИ и др. 2010. Клиническая диагностика редкого наследственного заболевания — синдрома Костелло. Рос вестник перинатологии и педиатрии 5: 27—30.
2. Lin AE, Alexander ME, Colan SD et al. Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome. A Ras/MAPK Pathway syndrome.
3. Gripp KW, Innes AM, Axelrad ME et al. 2008, Mar 15. Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? Am J Med Genet A 146A(6):683—690. doi: 10.1002/ajmg.a.32227. http://dx.doi.org/10.1002/ajmg.a.32227
4. Axelrad ME, Schwartz DD, Fehlis JE et al. 2009, Dec.. Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome. Am J Med Genet A 149A(12): 2666—2672. doi: 10.1002/ajmg.a.33126. http://dx.doi.org/10.1002/ajmg.a.33126
5. Gripp K.W., Hopkins E., Sol-Church K. et al. 2011, Apr. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A 155A(4): 706—716. http://dx.doi.org/10.1002/ajmg.a.33884