Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Raas‐Rothschild, Annick; Nir, A.; Ergaz, Z.; Ziv, J. Bar; Rein, Azaria J.J.T.

doi:10.1002/(sici)1096-8628(19990604)84:4<361::aid-ajmg10>3.0.co;2-o

Cited by 29 publications

(7 citation statements)

References 13 publications

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“…Tibial hemimelia is also linked to tibial hemimelia–diplopodia syndrome [32], tibial hemimelia–split hand and foot syndrome [33] and tibial hemimelia–micromelia–trigonal brachycephaly syndrome [34]. The Gollop–Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand, ipsilateral bifurcation of the femur and tibial hemimelia [35]; both autosomal dominant and recessive inheritance have been reported for this malformation [35]. …”

Section: Introductionmentioning

confidence: 99%

Tibial hemimelia: New classification and reconstructive options

Paley¹

2016

Journal of Children's Orthopaedics

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Tibial hemimelia is a rare congenital lower limb deficiency presenting with a wide spectrum of associated congenital anomalies, deficiencies and duplications. Reconstructive options have been limited, and the gold standard for treatment has remained amputation with prosthetic fitting. There is now a better understanding of the genetics, etiology and pathoanatomy of tibial hemimelia. Armed with this knowledge, I present here a new classification to guide treatment and prognosis and then discuss new treatment strategies and techniques for limb reconstruction based on this new classification scheme.

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Section: Introductionmentioning

confidence: 99%

Tibial hemimelia: New classification and reconstructive options

Paley¹

2016

Journal of Children's Orthopaedics

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“…One case was reported of an Arab Muslim couple who came from a region where other consanguineous families with similarly affected individuals had been reported Kohn et al in 1989 9 , and the autosomal recessive inheritance seemed evident in the case of a child described by Raas-Rothschild et al in 1999 10 . In this case, we report a typical presentation of GWC with bilateral fibular agenesis and sacrococcygeal agenesis along with pathognomonic features of GWC (bifurcation of femur, syndactyly and ectrodactyly).…”

Section: Discussionmentioning

confidence: 95%

Case Report: Gollop-Wolfgang Complex in a 5 month old baby

et al. 2015

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Skeletal dysplasias are disorders associated with a generalized abnormality in the skeleton. The Gollop-Wolfgang complex (GWC) is a limb deficiency disorder and an unusual limb malformation with highly variable manifestations. Here we report an interesting case of a 5-month old male baby from India with Gollop-Wolfgang Complex showing bifurcation of the right femur, ectrodactyly of both feet, ectrodactyly of left hand, syndactyly of right hand and unusual presentation of bilateral fibular agenesis and caudal (Sacrococcygeal) agenesis. The etiology of GWC in this 5 month old male baby could possibly be attributed to spontaneous gene mutation. The clinical, radiographic findings and the unusual presentation are presented in detail.

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“…Moreover, several additional internal malformations in association with bifid femur and tibia agenesis have been discussed in the medical literature. Cardiac defects have been noticed in infants with GWC [13] . Raas-Rothschild et al [13] and van de Kamp et al, [14] have discussed its association with VACTREL syndrome [13] , [14] .…”

Section: Discussionmentioning

confidence: 99%