RESUMO
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. (); American Journal of Medical Genetics Part A 173A: 1358-1363]. This case supports the unpredictability of Wieacker-Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.
Assuntos
Apraxias/diagnóstico , Apraxias/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Contratura/diagnóstico , Contratura/genética , Estudos de Associação Genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Oftalmoplegia/diagnóstico , Oftalmoplegia/genética , Proteínas de Transporte/genética , Pré-Escolar , Cromossomos Humanos X , Fácies , Feminino , Testes Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Mutação , Proteínas Nucleares , Linhagem , FenótipoRESUMO
BACKGROUND: Use of latissimus flap in prosthetic breast reconstruction after mastectomy is an established approach, particularly in patients who have failed breast-conserving therapy. This study presents a comparison of the prepectoral and the subpectoral approach for two-stage prosthetic breast reconstruction with a latissimus flap. METHODS: A retrospective review of outcomes and complications was completed between the prepectoral group (nâ¯=â¯33 patients, 50 reconstructed breasts) and the subpectoral group (nâ¯=â¯22 patients, 36 reconstructed breasts). RESULTS: The demographics were similar between the prepectoral and subpectoral groups in terms of mean age (52.4â¯vs. 52.5 years, pâ¯=â¯0.97), smoking history (15.1% vs. 13.6%; pâ¯=â¯1.00), radiation history (75.8% vs. 91.0%; pâ¯=â¯0.28), and mean length of follow-up (479â¯vs. 680 days; pâ¯=â¯0.07). The body mass index was significantly higher in the prepectoral group (27.6â¯vs. 25.2â¯kg/m2; pâ¯=â¯0.03). Complications were similar between the groups in terms of hematoma (9.1% vs. 0.0%, pâ¯=â¯0.26), infection resulting in implant failure (9.1% vs. 4.5%, pâ¯=â¯0.64), thromboembolic events (3.0% vs. 4.5%, pâ¯=â¯1.0), donor site seroma (66.7% vs. 40.9%, pâ¯=â¯0.09), breast seroma (18.2% vs. 27.3%, pâ¯=â¯0.51), capsular contracture (9.1% vs. 4.5%, pâ¯=â¯0.64), animation deformity (39.4% vs. 50.0%, pâ¯=â¯0.58), and reoperation (24.2% vs. 22.8%, pâ¯=â¯1.00). Patient satisfaction scores were also similar between the groups (4.33⯱â¯1.08â¯vs. 4.14⯱â¯1.13, pâ¯=â¯0.52). CONCLUSIONS: The prepectoral approach for two-stage immediate prosthetic reconstruction with a latissimus flap has similar outcomes and complications to those of the subpectoral approach, yet obviating the need for any pectoralis major muscle dissection.