The first case of Bruck syndrome associated with gastroschisis

Afsarlar C. E., Peltek-Kendirci H. N., Erdogan D., Ozguner I. F., ÇAVUŞOĞLU Y. H., Karaman A., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.6, ss.651-654, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 6
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.651-654
  • Anahtar Kelimeler: Bruck syndrome, gastroschisis, osteogenesis imperfecta, joint contracture, pamidronate, CONGENITAL JOINT CONTRACTURES, SYNDROME OSTEOGENESIS IMPERFECTA, TELOPEPTIDE LYSYL HYDROXYLASE, BONE FRAGILITY, PLOD2
  • Gazi Üniversitesi Adresli: Hayır

Özet

Bruck syndrome is an extremely rare disorder featuring the unusual combination of skeletal changes resembling osteogenesis imperfecta with congenital contractures of large joints. Although the genotypic and phenotypic features of Bruck syndrome are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and joint contractures, which supported the diagnosis of Bruck syndrome. After surgical procedures for gastroschisis, the fractures were treated with splints, and cyclic pamidronate treatment was started. On postoperative day 30, the patient was discharged without any complications. She is now seven months of age, gaining weight and has had no additional fractures with the ongoing pamidronate treatment. Although prematurity and low birth weight are common in gastroschisis, musculoskeletal anomalies have not been reported until now, and thus the case is unique. Additionally, cyclic pamidronate administration is a good treatment choice for bone fragility in Bruck syndrome to reduce the number of fractures, and it may be beneficial for the subsequent clinical deterioration of the patients.