Gollop-Wolfgang complex explained
Gollop-Wolfgang complex |
Symptoms: | Complex of skeletal and digital anomalies |
Onset: | Conception |
Duration: | Lifelong |
Risk: | --> |
Prevention: | none |
Management: | --> |
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
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]
Notes and References
- Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Gollop Wolfgang complex . 2022-06-09 . www.orpha.net . en.
- Web site: Femur bifid with monodactylous ectrodactyly - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-09 . rarediseases.info.nih.gov . en.
- 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 . en . 127A . 1 . 65–68 . 10.1002/ajmg.a.20626 . 15103720 . 9216554 . 0148-7299. free .
- Web site: OMIM Entry - % 228250 - FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY . 2022-06-09 . omim.org . en-us.
- 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 . 10.1002/ajmg.1320070313 . 0148-7299 . 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 . 10.2106/00004623-198466030-00021 . 0021-9355 . 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 . 10.1002/ajmg.1320330206 . 0148-7299 . 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 . 10.1002/ajmg.1320250623 . 1040-3787 . 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 . 10.1002/(SICI)1096-8628(19981228)80:5<529::AID-AJMG19>3.0.CO;2-9 . 0148-7299 . 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 . 10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O . 0148-7299 . 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 . 10.1002/ajmg.a.20626 . 1552-4825 . 15103720. 9216554 . free .
- 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 . 10.1002/ajmg.a.30636 . 1552-4825 . 15732065. 41023625 . free .
- 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 . 1015-8146 . 20420023.
- Web site: RESERVADOS . INSERM US14-- TODOS LOS DERECHOS . Orphanet: Bifid femur monodactylous ectrodactyly . 2022-06-09 . www.orpha.net . es.