CASE REPORT
A child with a rare genetic disease – Noonan syndrome
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Department of Oral Surgery, Medical University of Lodz, Poland
 
 
J Pre Clin Clin Res. 2015;9(1):87-88
 
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ABSTRACT
Noonan syndrome is a congenital developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies, with as estimated incidence of between one per 1000 and one per 2500 live births. The aim of our study is to present a case of dental surgical treatment of a child with such disorder. It is widely reported that children with mental disabilities receive less dental and medical care than their nondisabled counterparts. Because of this problem, it seems justified to describe the procedures of treating such children with dental issues, basing on a case of a girl with Noonan Syndrome.
 
REFERENCES (10)
1.
Judith E. Allanson, Noonan Syndrome. Managment of Genetic Syndrome 2010.
 
2.
Soultanis KC, Payatakes AH, Chouliaras VT, Mandellos GC, Pyrovolou NE, Pliarchopoulou FM, Soucacos PN. Rare causes of scoliosis and spine deformity: experience and particular features. Scoliosis 2007; 2: 15.
 
3.
Kelnar CJ. Growth hormone therapy for syndromic disorders. Clin Endocrinol (Oxford). 2003; 59(1): 12–21.
 
4.
Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew K, Okuyama T, Horikawa R, Tanaka T, Ogata T. Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab. 2004; 89(7): 3359–3364.
 
5.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002; 70(6): 1555–1563.
 
6.
Hilczer M, Smyczyńska J, Kaniewska D, Stawerska R, Lewiński A. Wielkość przysadki i wydzielanie hormonu wzrostu u dzieci z niedoborem wzrostu; zalezność pomiedzy wielkością przysadki a odpowiedzią na hormon wzrostu w pierwszym roku leczeniau dzieci z niedoborem hormonu wzrostu. Endokrynol Pediatr. 2003; 3: 9–19 (in Polish).
 
7.
Lewiński A, Hilczer M, Pniewska-Siark B, Smyczyńska J, Stawerska R. Ogólnopolski program leczenia niedoboru wzrostu u ludzi dorosłych. Endokrynol Pol. 2000; 51: 645–691 (in Polish).
 
8.
Baroncelli GI, Bertelloni S, Ceccareli C, Saggese G. Effect of growth hormone treatment on final height, phosphate metabolism,and bone mineral density in children with X-linked hypophosphatemic rickets. J Pediatr. 2001; 138: 236–243.
 
9.
Respondek-Liberska M. Sonograficzne markery zespołów genetycznych. Przegląd Chirurgii Dziecięcej 2009; 4(2–3): 29–41 (in Polish).
 
10.
Janas A, Osica P, Siwik P, Grzesiak-Janas G. Dziecko z rzadką chorobą genetyczną – zespołem Cornelii de Lange. MS. 2013; 3: 72–74 (in Polish).
 
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ISSN:1898-2395
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