Gollop-Wolfgang complex
| Gollop-Wolfgang complex | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | Complex of skeletal and digital anomalies |
| Usual onset | Conception |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Good |
| Frequency | very rare |
| Deaths | - |
Gollop-Wolfgang complex is a very rare genetic disorder which is characterized by skeletal and digital anomalies.[1]
Signs and symptoms
[edit]This complex consists of the following symptoms:[2]
- Bifid femur
- Hypoplastic/aplastic tibia and ulnae bone
- Shortening of the limbs
- Ectrodactyly
Causes
[edit]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
[edit]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
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Gollop Wolfgang complex". www.orpha.net. Retrieved 2022-06-09.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Femur bifid with monodactylous ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-09.
- ^ 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. 127A (1): 65–68. doi:10.1002/ajmg.a.20626. ISSN 0148-7299. PMID 15103720. S2CID 9216554.
- ^ "OMIM Entry - % 228250 - FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY". omim.org. Retrieved 2022-06-09.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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. S2CID 9216554.
- ^ 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. S2CID 41023625.
- ^ 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.
- ^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Bifid femur monodactylous ectrodactyly". www.orpha.net (in Spanish). Retrieved 2022-06-09.
{{cite web}}: CS1 maint: numeric names: authors list (link)
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