Tibial aplasia‐ectrodactyly as variant expression of the Gollop‐Wolfgang complex: Report of a Brazilian family

Richieri-Costa, Antônio; Brunoni, Décio; Filho, José Laredo; Kasinski, Silvana Kertzer; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320280424

Cited by 37 publications

(32 citation statements)

References 13 publications

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“…The combination of bifurcation of the femur, tibial hemimelia, and ectrodactyly in the older brother was consistent with the GollopWolfgang complex, whereas the phenotype in the younger brother was consistent with tibial agenesisectrodactyly syndrome. Affected families with phenotypic variations similar to those of the present sibs have previously been reported (Majewski et al, 1985;Richieri-Costa et al, 1987a, 1987b. Thus, the GollopWolfgang complex and tibial agenesis-ectrodactyly syndrome can represent phenotypic variability of the same disorder.…”

Section: Resultssupporting

confidence: 68%

“…It may present as an isolated anomaly, or may be associated with a variety of skeletal and extraskeletal malformations, such as polysyndactyly, clubhand, radioulnar synostosis, bifid femur, cleft lip/palate, and imperforate anus (Jones et al 1978;Richieri-Costa et al 1990). Tibial hemimelia may also constitute a part of more complicated malformation complex or syndrome, such as the Gollop-Wolfgang complex (Richieri-Costa et al 1987a, 1987bMIM: 228250), tibial agenesisectrodactyly syndrome (Majewski et al 1985), and triphalangeal thumb-polysyndactyly syndrome (TPTPS: MIM 190605).…”

Section: Introductionmentioning

confidence: 99%

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A pair of sibs with tibial hemimelia born to phenotypically normal parents

et al. 2003

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Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. Tibial hemimelia is identified as a solitary disorder, or a part of more complex malformation syndromes. Although the majority of cases with tibial hemimelia are sporadic, affected families with possible autosomal dominant or autosomal recessive inheritance have been reported. Here we report a pair of sibs, 6-and 2-year-old Japanese boys, with tibial hemimelia born to unrelated, phenotypically normal parents. The type of tibial hemimelia and associated malformations of hands and feet was quite different between the brothers. The elder brother was compatible with the Gollop-Wolfgang complex, and the younger brother with tibial agenesisectrodactyly syndrome. Screening of mutation by direct sequencing of candidate genes including Sonic hedgehog, HOXD-11, and HOXD-12 was unable to identify a disease-causing mutation.

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Section: Resultssupporting

confidence: 68%

Section: Introductionmentioning

confidence: 99%

A pair of sibs with tibial hemimelia born to phenotypically normal parents

et al. 2003

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“…The GollopWolfgang complex includes the most typical manifestations of tibial defects. Usually sporadic, it is characterized by unilateral bifid femur with mono/ectrodactyly of the hallw and bilateral absence of the tibia [Gollop et al, 1980;Richieri-Costa et al, 1987a;Kohn et al, 19891. The fibular field involves development of the fibula, of the fibular portion of the foot, which probably includes all rays, except the hallux, of the proximal portion of the femur, and of the acetabulum and pubic bone [Wiedemann and Opitz, 1983;McKay et al, 1984; the etiopathogenesis of limb dysostoses.…”

Section: Discussionmentioning

confidence: 99%

Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): A model of a developmental field defect

et al. 1995

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Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalities can be found in the presence of a typical FAH picture. We report on 5 patients with a variable combination of femoral and fibular defects. In one of them unilateral PFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face syndrome (FH/UFS). Another patient had isolated PFFD on one side, with controlateral absence of femur, fibula, and tibia. Another patient had a PFFD, fibular hypoplasia, and abnormalities of fibular foot rays, and the last 2 patients, a father and son, had, respectively, bilateral foot malformations plus fibular and tibial hypoplasia in the father and a PFFD in the son. These observations represent a further demonstration of the existence of a fibular developmental field, and contribute to the definition of its spatial boundaries. The variable involvement of elements comprised in the developmental field can be explained by multifactorial etiology.

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“…The syndrome is highly variable with isolated hypoplasia of the hallux as the mildest manifestation [Majewski et al, 1985]. Both sporadic and familial cases have been described [Majewski et al, 1985[Majewski et al, , 1996Richieri-Costa et al, 1987a]. Bifurcation of the femur appears not to be common in these patients.…”

Section: Discussionmentioning

confidence: 99%

Bifurcation of the femur with tibial agenesis and additional anomalies

Kamp¹,

Smagt²,

Bos³

et al. 2005

Am. J. Med. Genet.

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Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop-Wolfgang Complex and the tibial agenesis-ectrodactyly syndrome. We report on two patients with bifurcation of the femur and tibial agenesis. Hand ectrodactyly was seen in one of these patients. Both patients had unusual additional anomalies. The first patient had in addition proximal focal femoral deficiency, the other patient had a tracheo-esophageal fistula and pyloric stenosis. Clinical and genetic aspects are discussed.

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Tibial aplasia‐ectrodactyly as variant expression of the Gollop‐Wolfgang complex: Report of a Brazilian family

Cited by 37 publications

References 13 publications

A pair of sibs with tibial hemimelia born to phenotypically normal parents

A pair of sibs with tibial hemimelia born to phenotypically normal parents

Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): A model of a developmental field defect

Bifurcation of the femur with tibial agenesis and additional anomalies

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