TY - JOUR TT - DELAYED OPEN ANTERIOR FONTANEL IN A 10-YEAR-OLD BOY: PYCNODYSOSTOSIS AU - Sert, Ahmet AU - Atabek, Mehmet Emre AU - Pırgon, Özgür PY - 2007 DA - June JF - Türkiye Çocuk Hastalıkları Dergisi JO - Türkiye Çocuk Hast Derg PB - T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi WT - DergiPark SN - 1307-4490 SP - 33 EP - 37 VL - 1 IS - 1 KW - Piknodizostoz KW - cücelik KW - fontanel açıklığı N2 - Pycnodysostosis is a sclerosing skeletal dysplasia characterized with short stature, osteosclerosis, frequent fractures, acroosteolysis of the distal phalanges, clavicular dysplasia, and skull deformities with delayed suture closure. In this paper a 10-year-old boy with pycnodysostosis is reported. He had typical facial features, short stature, open fontanel, short stubby hands, high arched palate as well as radiological features including open cranial sutures, obtuse angle of mandible, and generalized skeletal sclerosis. We think that even pycnodysostosis is infrequent; it may be one from the causes of delayed open fontanel. The making of differential diagnosis of pycnodysostosis is important in the prognosis of disease and determining of treatment CR - 1. Maroteaux P, Lamy M. La pycnodysostose. Presse Med 1962;70: 999-1002 CR - 2. Herring JA. Skeletal dysplasias. In: Herring JA, ed. Tachdjian's pediatric orthopaedics. 3rd ed. Philadelphia: W.B. Saunters Co.2002: 1505-1583 CR - 3. Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab 2004;89: 1538-1547. CR - 4. Bundak R, Neyzi O. Büyüme. In: Neyzi O, Ertuğrul T (eds). Pediatri. 3. baskı. İstanbul: Nobel Tıp Kitabevleri, 2002: 79-100. CR - 5. Bereket A, Turan S, Omar A, Berber M, Ozen A, Akbenlioglu C, Haklar G. Serum IGF-I and IGFBP3 levels of Turkish children during childhood and adolescence: establishment of reference ranges with emphasis on puberty. Horm Res 2006;65: 96-105. CR - 6. Schilling AF, Mulhausen C, Lehmann W, Santer R, Schinke T, Rueger JM, Amling M. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. Osteoporos Int 2007;18: 659-669. CR - 7. Zenke MS, Hatori M, Tago S, Hosaka M, Kokubun S. Pycnodysostosis associated with spondylolysis. Arch Orthop Trauma Surg 2002;122:248 -250. CR - 8. Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM. Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism 2001;50: 905 -911. CR - 9. Darcan S, Akisu M, Taneli B, Kendir G. A case of pycnodysostosis with growth hormone deficiency. Clin Genet 1996;50: 422-425. CR - 10. Yalın CT, Bayrak İK, Yazıcı B. Piknodizostozis: direkt radyografi bulguları. Tanısal ve Girişimsel Radyoloji 2002;8: 453-458. CR - 11. Muthukrishnan N, Shetty MV. Pycnodysostosis. Report of a case. Am J Roentgenol Radium Ther Nucl Med 1972;114: 247-252. CR - 12. Kiesler J, Ricer R. The abnormal fontanel. Am Fam Physician 2003;67: 2547-2552. UR - https://dergipark.org.tr/tr/pub/tchd/issue//550756 L1 - https://dergipark.org.tr/tr/download/article-file/690358 ER -