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YENİDOĞANDA FİBULAR HEMİMELİ VE PES EKİNOVARUS BİRLİKTELİĞİ: OLGU SUNUMU

Yıl 2021, Cilt: 18 Sayı: 3, 1000 - 1003, 25.09.2021
https://doi.org/10.38136/jgon.872779

Öz

Fibular hemimeli (FH), fibulanın kısmi veya tam yokluğu ile karakterize konjenital alt ekstremite anomalisidir. Bildirilen vakaların çoğu sporadiktir. Etiyolojisi ve anomalinin gelişimsel biyolojisi tam olarak anlaşılamamıştır. Tam yokluğu kısmi yokluğa göre, unilateral tutulum bilateral tutuluma göre daha sık görülmekte , sağ taraf sola göre daha sık etkilenmektedir. Erkeklerde görülme sıklığı kızlara göre iki kat daha fazladır. Kardiyak anomaliler, ürogenital sistem anomalileri, trombositopeni, sağırlık, torakoabdominal şizis sağırlık gibi durumlarla birlikte olabildiği gibi en çok iskelet sistemi anomalilerine eşlik ettiği görülmüştür.

Kaynakça

  • Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D. Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. Ann N Y Acad Sci. 2017;1409(1):67-78.
  • Paley D. Surgical reconstruction for fibular hemimelia. J Child Orthop. 2016;10(6):557-583.
  • Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. 2006;25(4):533-7.
  • Yakıştıran B, Altınboğa O, Yüce T, Çağlar AT. Fetal fibular hemimelia with focal femoral deficiency: A case report. Turk J Obstet Gynecol. 2019;16(3):205-207.
  • Cekmez F, Pirgon O, Canpolat FE. An infant with congenital fibula deficiency accompanying with deafness. Eur Rev Med Pharmacol Sci. 2012;(16 Suppl 4):62-3.
  • Önder Yılmaz H, Topak D, Yılmaz O, Çakmaklı S. A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation. J Pediatr Genet. 2019;8(2):95-99.
  • Smets G, Vankan Y, Demeyere A. A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report. J Belg Soc Radiol. 2016;100(1):41.
  • Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Infant with midline thoracoabdominal schisis and limb defects. Teratology. 1998;58(5):205-8.
  • Caskey PM, Lester EL. Association of fibular hemimelia and clubfoot. J Pediatr Orthop. 2002;22(4):522-5.
  • Eberhardt O, Langendörfer M, Fernandez FF, Wirth T. Clubfoot associated with tibial and fibular hemimelia. Z Orthop Unfall. 2012;150(5):525-32.
  • Ray R, Zorn E, Kelly T, Hall JG, Sommer A. Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome. Am J Med Genet. 1980;7(4):523-8.
  • Delooz J, Moerman P, Van den Berghe K, Fryns JP. Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome? Genet Couns. 1992;3(2):91-3.
  • Ergin H, Semerci CN, Bican M, Düzcan F, Yagci AB, Erdogan KM, Tufan AC. A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. Turk J Pediatr. 2006;48(4):380-2.
  • Ho CK, Kaufman RL, McAlister WH. Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly. Am J Dis Child. 1975;129(6):714-6.
  • Reardon W, Hurst J, Farag TI, Hall C, Baraitser M. Two brothers with heart defects and limb shortening: case reports and review. J Med Genet. 1990;27(12):746-51.
  • Cakir M, Hoefsloot LH, Orhan F, Gedik Y, Celep F, Okten A. Distal femoral duplication and fibular agenesis associated with congenital cardiac defect. Indian J Pediatr. 2010;77(2):210-1.
  • Kumar D, Krishnamurthy S. A rare association of congenital absence of femur and fibular hemimelia with maternal hyperpyrexia. Indian J Pediatr. 2009 Nov;76(11):1178-9.
  • Guschmann M, Becker R, Urban M, Entezami M, Hese S, Vogel M. Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Klin Padiatr. 2001 Sep-Oct;213(5):301-5.
  • Saghir S, Bousbaa H, Agadr A. Bilateral fibular hemimelia associated with hip dislocation and femoral head necrosis. Clin Case Rep. 2018 Mar 24;6(5):959-960.
  • Isik E, Atik T, Ozkinay F. The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly. Clin Dysmorphol. 2019 Jan;28(1):38-40.

FIBULAR HEMIMELIA IN A NEWBORN ACCOMPANYING WITH PES EQUINOVARUS: A CASE REPORT

Yıl 2021, Cilt: 18 Sayı: 3, 1000 - 1003, 25.09.2021
https://doi.org/10.38136/jgon.872779

Öz

Fibular hemimelia (FH) is a congenital lower extremity anomaly characterized by the partial or complete absence of the fibula. Most of the reported cases are sporadic. The etiology and the developmental biology of the anomaly have not been completely understood. The complete absence of fibula is more common than the partial absence; unilateral involvement is more common than bilateral, and the right side is more commonly affected than the left. Its incidence in boys is twice as high as in girls. Although the condition can accompany cardiac anomalies, urogenital system anomalies thrombocytopenia, deafness, and thoracoabdominal schisis, it is most commonly observed with skeletal system anomalies.

Kaynakça

  • Zhang Z, Yi D, Xie R, Hamilton JL, Kang QL, Chen D. Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology. Ann N Y Acad Sci. 2017;1409(1):67-78.
  • Paley D. Surgical reconstruction for fibular hemimelia. J Child Orthop. 2016;10(6):557-583.
  • Monteagudo A, Dong R, Timor-Tritsch IE. Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. 2006;25(4):533-7.
  • Yakıştıran B, Altınboğa O, Yüce T, Çağlar AT. Fetal fibular hemimelia with focal femoral deficiency: A case report. Turk J Obstet Gynecol. 2019;16(3):205-207.
  • Cekmez F, Pirgon O, Canpolat FE. An infant with congenital fibula deficiency accompanying with deafness. Eur Rev Med Pharmacol Sci. 2012;(16 Suppl 4):62-3.
  • Önder Yılmaz H, Topak D, Yılmaz O, Çakmaklı S. A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation. J Pediatr Genet. 2019;8(2):95-99.
  • Smets G, Vankan Y, Demeyere A. A Female Newborn Infant with FATCO Syndrome Variant (Fibular Hypoplasia, Tibial Campomelia, Oligosyndactyly) - A Case Report. J Belg Soc Radiol. 2016;100(1):41.
  • Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Infant with midline thoracoabdominal schisis and limb defects. Teratology. 1998;58(5):205-8.
  • Caskey PM, Lester EL. Association of fibular hemimelia and clubfoot. J Pediatr Orthop. 2002;22(4):522-5.
  • Eberhardt O, Langendörfer M, Fernandez FF, Wirth T. Clubfoot associated with tibial and fibular hemimelia. Z Orthop Unfall. 2012;150(5):525-32.
  • Ray R, Zorn E, Kelly T, Hall JG, Sommer A. Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome. Am J Med Genet. 1980;7(4):523-8.
  • Delooz J, Moerman P, Van den Berghe K, Fryns JP. Tetraphocomelia and bilateral femorotibial synostosis. A severe variant of the thrombocytopenia-absent radii (TAR) syndrome? Genet Couns. 1992;3(2):91-3.
  • Ergin H, Semerci CN, Bican M, Düzcan F, Yagci AB, Erdogan KM, Tufan AC. A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. Turk J Pediatr. 2006;48(4):380-2.
  • Ho CK, Kaufman RL, McAlister WH. Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly. Am J Dis Child. 1975;129(6):714-6.
  • Reardon W, Hurst J, Farag TI, Hall C, Baraitser M. Two brothers with heart defects and limb shortening: case reports and review. J Med Genet. 1990;27(12):746-51.
  • Cakir M, Hoefsloot LH, Orhan F, Gedik Y, Celep F, Okten A. Distal femoral duplication and fibular agenesis associated with congenital cardiac defect. Indian J Pediatr. 2010;77(2):210-1.
  • Kumar D, Krishnamurthy S. A rare association of congenital absence of femur and fibular hemimelia with maternal hyperpyrexia. Indian J Pediatr. 2009 Nov;76(11):1178-9.
  • Guschmann M, Becker R, Urban M, Entezami M, Hese S, Vogel M. Femur-fibula-ulna (FFU) complex in the 33rd week of gestation: ultrasonography, radiology, pathology and differential diagnosis. Klin Padiatr. 2001 Sep-Oct;213(5):301-5.
  • Saghir S, Bousbaa H, Agadr A. Bilateral fibular hemimelia associated with hip dislocation and femoral head necrosis. Clin Case Rep. 2018 Mar 24;6(5):959-960.
  • Isik E, Atik T, Ozkinay F. The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly. Clin Dysmorphol. 2019 Jan;28(1):38-40.
Toplam 20 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Çocuk Sağlığı ve Hastalıkları
Bölüm Olgu Sunumu
Yazarlar

Gökçe ÇIPLAK 0000-0002-5853-3665

Refika SİRMA DOKUZBOY 0000-0002-7050-3215

Evrim ALYAMAC DİZDAR 0000-0001-8956-0917

Fatma Nur SARI 0000-0003-4643-7622

Yayımlanma Tarihi 25 Eylül 2021
Gönderilme Tarihi 11 Şubat 2021
Kabul Tarihi 17 Mayıs 2021
Yayımlandığı Sayı Yıl 2021 Cilt: 18 Sayı: 3

Kaynak Göster

Vancouver ÇIPLAK G, SİRMA DOKUZBOY R, ALYAMAC DİZDAR E, SARI FN. YENİDOĞANDA FİBULAR HEMİMELİ VE PES EKİNOVARUS BİRLİKTELİĞİ: OLGU SUNUMU. JGON. 2021;18(3):1000-3.