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1.
Clin Anat ; 16(5): 411-5, 2003 Sep.
Article in English | MEDLINE | ID: mdl-12903063

ABSTRACT

Tarsal coalitions (TC) are defined as fibrous (beyond normal ligaments), cartilaginous, or osseous unions of at least two tarsal bones. Most of the clinical studies report the prevalence of TC as <1%, but they disregard the asymptomatic coalitions. Because TC have been associated with pathologic conditions, including degenerative arthritic changes, knowledge of their prevalence has clinical importance. The aim of our study was to establish the prevalence of TC and tarsal joint variants. A total of 114 feet from 62 cadavers (average age = 78 years) without obvious foot pathologies were dissected at the Department of Anatomical Sciences, The University of Adelaide. Ten non-osseous TC in eight subjects were identified: two talocalcaneal and eight calcaneonavicular (occurred twice bilaterally). Variant calcaneonavicular and cuboideonavicular joints were found in 8% and 31% of feet, respectively. Other joint variants included a variable number of talocalcaneal joint surfaces and sesamoid bones. No secondary TC (due to trauma, infections, or neoplasm) were found. Our study demonstrated that the overall prevalence of TC is higher (13%) than previously thought; tarsal joint variations (39%) and sesamoid bones (42%) were common as well. The supposed secular increase in the prevalence of TC as well as the high number of anatomical variants could reflect a short-term response to altered life-style or a microevolutionary trend due to relaxed selection.


Subject(s)
Foot Deformities, Congenital/pathology , Genetic Variation , Tarsal Joints/abnormalities , Aged , Cadaver , Female , Foot Deformities, Congenital/ethnology , Humans , Male , South Australia/epidemiology , White People/ethnology
2.
Am J Med Genet ; 73(1): 48-54, 1997 Nov 28.
Article in English | MEDLINE | ID: mdl-9375922

ABSTRACT

The aim of this work was to test whether postaxial hexadactyly had different clinical and epidemiological characteristics depending on hand or foot involvement. In the period 1967-1993, the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) enrolled 1,582,289 births, and 2,271 cases with isolated (nonsyndromal) postaxial polydactyly (5th-digit hexadactyly). The prevalence was 14.3/10,000 births. Postaxial polydactyly (PP) of the hand (HPP) was the most frequent type (N:1,733; 76.3%; prevalence: 11.0/10,000), followed by foot PP (FPP=N:351; 15.5%; prevalence: 2.2), and hand and foot PP (BPP=N:187; 8.2%; prevalence: 1.2). Unlike HPP (55.0% bilateral; 77.2% left), FPP was less frequently bilateral (19.4%), with lower preference for the left side (55.5%). As expected, HPP was associated with African Black ethnicity, male sex, twinning, low maternal education, parental consanguinity, and there was frequent recurrence in 1st-degree relatives. Conversely, FPP was associated with Amerindian racial background, parental subfertility, and bleeding in the 1st trimester of pregnancy. BPP displayed the highest frequency of associated congenital defects (23.4%, vs HPP:6.6%, FPP: 15.4%). In its isolated form, BPP resembled HPP more than FPP with respect to left preference (90.9%), familial recurrence (11.0% of 1st degree relatives), and low maternal education. Although male sex preference and high frequency of twinning was observed in the 3 PP subtypes, statistical significance was present only in HPP. None of the 3 PP subtypes showed abnormal values for perinatal mortality, birth weight, length of gestation, parental ages, or parity. A logistic regression analysis showed Black race only to be associated with HPP, parental subfertility with FPP, parental consanguinity with BPP, and non-Black race with both FPP and BPP. The data presented here are the first indication that HPP and FPP are 2 different entities, with a larger genetic component in HPP than in FPP.


Subject(s)
Foot Deformities, Congenital/epidemiology , Hand Deformities, Congenital/epidemiology , Polydactyly/epidemiology , Ethnicity/genetics , Female , Foot Deformities, Congenital/ethnology , Hand Deformities, Congenital/ethnology , Humans , Likelihood Functions , Male , Phenotype , Polydactyly/ethnology , Pregnancy , Prevalence , Sex Characteristics
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