Prenatal Tanı Alan Bir Gollop-Wolfgang Kompleksi Olgusu

Year 2024, , 369 - 372, 01.05.2024

Gül Alkan Bülbül , Hülya Kandemir , Emine Kirtiş , Saniye Merve Gül Kara , Cem Yaşar Sanhal

https://doi.org/10.53394/akd.1063579

Abstract

Gollop-Wolfgang kompleksi (GWC) , el ektrodaktilisi ile ilişkili olan veya olmayan distal femoral duplikasyon ve tibial agenezi ile karakterize nadir bir konjenital ortopedik malformasyondur (1/106 canlı doğum). GWC etiyolojisi hala bilinmiyor ve cerrahi ile düzeltme günümüzde hala zordur. Gallop Wolfgang Kompleksi ile ilişkili diğer anomaliler: ulna hipoplazisi, kardiyak anomaliler, omurga ve toraks segmentasyon defektleri, kloaka ekstrofisi, imferfore anus, trakea-özofageal fistül, özefagus atrezisi, proksimal fokal femoral yetmezlik, yarık damak ve dudaktır. Prenatal tanı, gebeliğin ikinci trimesterinde ultrason taramaları ile yapılabilir. Olgu sunumumuzda prenatal tanı almış, oldukça nadir görülen Gallop Wolfgang kompleksi tartışıldı.

Keywords

Gollop Wolfgang kompleks, tibial agenezi, prenatal tanı

A Case of Gollop-Wolfgang Complex with Prenatal Diagnosis

Abstract

Gollop-Wolfgang complex (GWC) is a rare congenital orthopedic malformation (1/106 live births) characterized by a distal femoral duplication and tibial agenesis associated or not with hand ectrodactyly. The etiology of GWC is unknown and the surgical correction is still difficult. Other abnormalities related to GWC: ulna hypoplasia, cardiac abnormalities, spine and thorax segmentation defects, kloaca extropy, imperforated anus, trachea-esophageal fistule, esophagus atresia, proximal focal femoral failure, cleft palate, and lip. Prenatal diagnosis can be performed by ultrasound scans in the second trimester of pregnancy. Object in our case, very rarely seen Gallop Wolfgang Complex with prenatal diagnosis has been discussed.

Keywords

Gollop Wolfgang complex, tibial agenesis, prenatal diagnosis

References

• 1. Kalamachi A, Dawe RV. Congenital deficiency of the tibia. J Bone Joint Surg Br 1985; 67(4):581-4.
• 2. Ugras AA, Sungur I, Akyildiz MF, Ercin E. Tibial hemimelia and femoral bifurcation.Orthopedics 2010; 33(2):124-6.
• 3. Biswas SN, Biswas S, Chakraborty PP. Gollop Wolfgang complex: can it be a teratogenic condition? Indian J Pediatr 2016; 83(9):1051-3.
• 4. Mendilcioglu I, Mihci E, Pestereli E, Simsek M. Prenatal diagnosis of Gollop-Wolfgang complex (tibial agenesis and femoral bifurcation). Prenat Diagn 2009; 29:182-6.
• 5. Asamoah A, Nwankwo M, Kumar SP, Ezhuthachan SG, Van DykeDL. Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies. Am J Med Genet 2004; 127A:65–8.
• 6. Celentano C, Liberati M, Franchi PG, Palka G, Marino M, Calabrese G, Prefumo F, Rotmensch S. Fetal Gollop-Wolfgang complex associated with de novo chromosomal rearrangements typical of split-hand/split-foot anomaly. Ultrasound Obstet Gynecol 2004; 24:331.
• 7. Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura K, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. Orphanet J Rare Dis 2014; 9:125.
• 8. Guven MA, Batukan C, Ceylaner S, Ceylaner G, Uzel M. A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect. J Matern Fetal Neonatal Med 2006; 19:115–7.
• 9. Muzaffar N. Tibial agenesis and Gollop-Wolfgang complex in three siblings born to an epileptic woman treated with carbamazepine: teratogenicity? Genetics 2013; 2:118.