Sotos Sendromu: Bir Vaka Sunumu

Yıl 2020, Cilt: 7 Sayı: 1, 95 - 98, 01.04.2020

Güler Burcu Senirkentli , Resmiye Ebru Tirali , Didem Sakaryalı

https://doi.org/10.15311/selcukdentj.510518

Öz

Sotos sendromu, çocukluk döneminde endokrin bir bozukluk olmaksızın, aşırı büyüme, makrosefali, kendine özgü yüz görünümü ve çeşitli derecelerde öğrenme güçlüğü ile karakterize genetik bir durumdur. Olguların çoğu sporadik olup, otozomal dominant kalıtım modeline uyan aileler bildirilmiştir. Sendromdan esas sorumlu olan gen nükleer reseptör bağlayıcı SET domain1 (NSD1) proteinini kodlar. Nadir görülen bu sendrom ilk olarak 1964 yılında, ılımlı mental retardasyonu bulunan beş vakada Sotos ve arkadaşları tarafından tanımlanmıştır. Yüksek alın saç çizgisi, makrosefali, frontal bossing, uzun ve ince yüz görünümü, fronto-temporal bölgede saç seyrekliği, aşağı çekik palpebral fissürler ve belirgin mandibula karakteristik yüz görünümünü oluşturur ve ileri kemik yaşı ve değişik derecelerde mental gerilik diğer tanı kriterleridir.  Bu olgu sunumununda yaygın diş çürüğü ve spesifik oral bulguları bulunan 6 yaşındaki sotos sendromlu vakanın dental açıdan yönetimi vurgulanmıştır.

Anahtar Kelimeler

Sotos Sendromu, Hızlı Büyüme, Mental Retardasyon

Sotos Syndrome: A Case Report

Öz

Sotos syndrome is a genetic condition characterized by excessive growth, macrocephaly, specific facial appearance, and varying degrees of learning disability without an endocrine disorder in childhood. Most of the cases were sporadic and the families who matched the autosomal dominant inheritance pattern were reported. The gene responsible for the syndrome encodes the nuclear receptor binding SET domain1 (NSD1) protocol. This rare genetic syndrome was first described by Sotos et al. In 1964 in five cases with excessive height, acromegalic appearance and moderate mental retardation. The high forehead hairline, macrocephaly, frontal bossing, long and thin facial appearance, hair sparse in the fronto- temporal region, downward slanting palpebral fissures and prominent mandible are the characteristic facial appearance, and the advanced bone age and mental retardation in different levels are the other diagnostic criteria.The aim of this case report is to emphasize the dental management of 6 year old sotos syndrome with common dental caries and specific oral findings.

Anahtar Kelimeler

Sotos Syndrome, Rapid Growth, Mental Retardation

Kaynakça

• 1-Sotos JF, Argente J. Overgrowth disorders associated with tall stature. Adv Pediatr 2008; 55: 213-254.2- Katrina Tatton-Brown, Trevor RP Cole, Nazneen Rahman. Sotos Syndrome, GeneReviews, November 19, 2015.3-Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, et al. Aclinical study of Sotos syndrome patients with review of the literature. Pediatr Neurol 2009; 40: 357-364.4- Cole TRP, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994; 31: 20-32.5- Norimitsu Hirai, Kensuke Matsune, Hirofumi Ohashi. Craniofacial and Oral Features of Sotos Syndrome: Differences in Patients With Submicroscopic Deletion and Mutation of NSD1 Gene. Am J Med Genet Part A 155:2933–2939.6-Bale AE, Drum MA, Parry DM, Mulvihill JJ. Familial.Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics. Am J Med Genet 1985; 20: 613-624.7-Kurotaki N, Imaizumi K, Harada N, et al. Haplo- insufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365-366.8- Douglas J, Hanks S, Temple IK et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in overgrowth phenotypes. Am J Hum Genet 2003;72: 132-143.9- Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet. 2003;11:858–65. 10-Geneviève Baujat, Valérie Cormier-Daire. Sotos syndrome. Orphanet J Rare Dis. 2007; 2: 3611-Büyükgebiz A, Kinik E. Sotos syndrome presenting with epilepsy. Turkish J Ped 1990; 32: 59-63.12- , A. P. CALLANAN, P. ANAND & E. C. SHEEHY. Blackwell Publishing, Sotos syndrome with hypodontia. International Journal of Paediatric Dentistry 2006; 16:143–146.13- Cole TRP, Hughes HE (1994): Sotos syndrome: A study of the diagnosticcriteria and natural history. J Med Genet 31:20–32.14- Gorlin RJ, Cohen MM, Hennekam RCM.Syndromes of theHead and Neck, 4th edn. Oxford: Oxford University Press,2001: 399–427.15- Hirai N1, Matsune K, Ohashi H. Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. Am J Med Genet A. 2011 Dec;155A(12):2933-9.16- Takano M1, Kasahara K, Ogawa C, Katada H, Sueishi K. A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible. Bull Tokyo Dent Coll. 2012;53(2):75-82.17- Mikiko Inokuchi,Jouji Nomura , Yoshihiko Mtsumura, Motoko Sekida, Toshiro Tagawa. Sotos syndrome with enamel hypoplasia: a case report . J Clin Pediatr Dent 25(4): 313-316, 2001.18- Johanna Kotilainen,Pia Pohjola,Sinikka Pirinen,Sirpa Arte,Pekka Nieminen Premolar Hypodontia is a Common Feature in SotosSyndrome With a Mutation in the NSD1 Gene. Am J Med Genet Part A 149A:2409–2414.