Medicine:Gollop-Wolfgang complex

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Gollop-Wolfgang complex
SpecialtyMedical genetics
SymptomsComplex of skeletal and digital anomalies
Usual onsetConception
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisGood
Frequencyvery rare
Deaths-

Gollop-Wolfgang complex is a very rare genetic disorder which is characterized by skeletal and digital anomalies.[1]

Signs and symptoms

This complex consists of the following symptoms:[2]

Causes

When the genome of an isolated case of Gollop-Wolfgang complex was analyzed, Asamoah et al. discovered a deletion in the long arm of chromosome 8, this deletion consisted of the absence of 8q11.23-q13.3.[3]

Epidemiology

According to OMIM, only 26 cases have been described in medical literature.[4][5][6][7][8][9][10][11][12][13] According to ORPHANET, 200 cases have been reported.[14]

References

  1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Gollop Wolfgang complex" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986. 
  2. ↑ "Femur bifid with monodactylous ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2285/femur-bifid-with-monodactylous-ectrodactyly. 
  3. ↑ Asamoah, Alexnder; Nwankwo, Martin; Kumar, Savitri P.; Ezhuthachan, Sudhakar G.; Van Dyke, Daniel L. (2004-05-15). "Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies" (in en). American Journal of Medical Genetics 127A (1): 65–68. doi:10.1002/ajmg.a.20626. ISSN 0148-7299. PMID 15103720. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20626. 
  4. ↑ "OMIM Entry - % 228250 - FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY" (in en-us). https://omim.org/entry/228250. 
  5. ↑ Gollop, T. R.; Lucchesi, E.; Martins, R. M.; Nione, A. S. (1980). "Familial occurrence of bifid femur and monodactylous ectrodactyly". American Journal of Medical Genetics 7 (3): 319–322. doi:10.1002/ajmg.1320070313. ISSN 0148-7299. PMID 7468656. https://pubmed.ncbi.nlm.nih.gov/7468656/. 
  6. ↑ Wolfgang, G. L. (March 1984). "Complex congenital anomalies of the lower extremities: femoral bifurcation, tibial hemimelia, and diastasis of the ankle. Case report and review of the literature". The Journal of Bone and Joint Surgery. American Volume 66 (3): 453–458. doi:10.2106/00004623-198466030-00021. ISSN 0021-9355. PMID 6699064. https://pubmed.ncbi.nlm.nih.gov/6699064/. 
  7. ↑ Kohn, G.; el Shawwa, R.; Grunebaum, M. (June 1989). "Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type". American Journal of Medical Genetics 33 (2): 172–175. doi:10.1002/ajmg.1320330206. ISSN 0148-7299. PMID 2764026. https://pubmed.ncbi.nlm.nih.gov/2764026/. 
  8. ↑ Lurie, I. W.; Ilyina, H. G. (1986). "Gollop-Wolfgang complex in a 3-month-old girl". American Journal of Medical Genetics. Supplement 2: 191–194. doi:10.1002/ajmg.1320250623. ISSN 1040-3787. PMID 3146290. https://pubmed.ncbi.nlm.nih.gov/3146290/. 
  9. ↑ Endo, A.; Watanabe, K.; Shimada, M.; Minato, M.; Takada, M.; Takahashi, S.; Harada, K. (1998-12-28). "Bilateral involvement of hands and legs in the Gollop-Wolfgang complex". American Journal of Medical Genetics 80 (5): 529–530. doi:10.1002/(SICI)1096-8628(19981228)80:5<529::AID-AJMG19>3.0.CO;2-9. ISSN 0148-7299. PMID 9880223. https://pubmed.ncbi.nlm.nih.gov/9880223/. 
  10. ↑ Raas-Rothschild, A.; Nir, A.; Ergaz, Z.; Bar Ziv, J.; Rein, A. J. (1999-06-04). "Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities". American Journal of Medical Genetics 84 (4): 361–364. doi:10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O. ISSN 0148-7299. PMID 10340652. https://pubmed.ncbi.nlm.nih.gov/10340652/. 
  11. ↑ Asamoah, Alexnder; Nwankwo, Martin; Kumar, Savitri P.; Ezhuthachan, Sudhakar G.; Van Dyke, Daniel L. (2004-05-15). "Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies". American Journal of Medical Genetics. Part A 127A (1): 65–68. doi:10.1002/ajmg.a.20626. ISSN 1552-4825. PMID 15103720. https://pubmed.ncbi.nlm.nih.gov/15103720/. 
  12. ↑ Erickson, Robert P. (2005-04-30). "Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex". American Journal of Medical Genetics. Part A 134 (3): 315–317. doi:10.1002/ajmg.a.30636. ISSN 1552-4825. PMID 15732065. https://pubmed.ncbi.nlm.nih.gov/15732065/. 
  13. ↑ Fiogbe, M. A.; Hounnou, G. M.; Gbenou, A. S.; Biaou, O.; Sossou, R.; Laleye, A.; Koura, A.; Agossou-Voyeme, K. A. (2010). "Femoral bifurcation associated with tibial aplasia: about 3 cases". Genetic Counseling (Geneva, Switzerland) 21 (1): 1–7. ISSN 1015-8146. PMID 20420023. https://pubmed.ncbi.nlm.nih.gov/20420023/. 
  14. ↑ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Bifid femur monodactylous ectrodactyly" (in es). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=1926&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1986&Disease(s)/group%20of%20diseases=Bifid-femur---monodactylous-ectrodactyly&title=Bifid-femur---monodactylous-ectrodactyly&search=Disease_Search_Simple. 



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