Dataset Information

Breast reconstruction in a patient with Noonan syndrome.

ABSTRACT: Noonan syndrome (NS) is a relatively common genetic disorder with an autosomal dominant inheritance pattern affecting 1 in 1000-2500 births. Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. We report the first case of breast reconstruction in a 24-year-old woman with NS who lacked postpubertal breast development. Technical considerations for addressing the existing chest wall deformity, implant pocket selection as well as emphasis on the role of the plastic surgeon are presented.

SUBMITTER: Sharaf B

PROVIDER: S-EPMC5695322 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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Publications

Breast reconstruction in a patient with Noonan syndrome.

Sharaf Basel B Sabbagh Mohamed Diya MD Roh Si-Gyun SG

BMJ case reports 20171101

Noonan syndrome (NS) is a relatively common genetic disorder with an autosomal dominant inheritance pattern affecting 1 in 1000-2500 births. Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. We report the first case of breast reconstruction in a 24-year-old woman w ...[more]

PMID: 29092974

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Project description:ImportanceBreast reconstruction has the potential to improve a person's body image and quality of life but has important risks. Variations in who undergoes breast reconstruction have led to questions about the quality of patient decisions.ObjectiveTo assess the quality of patient decisions about breast reconstruction.Design, setting, and participantsA prospective, cross-sectional survey study was conducted from June 27, 2012, to February 28, 2014, at a single, academic, multidisciplinary oncology clinic among women planning to undergo mastectomy for stage I to III invasive ductal or lobular breast cancer, ductal carcinoma in situ, or prophylaxis.ExposuresMastectomy only and mastectomy with reconstruction.Main outcome and measuresKnowledge, as ascertained using the Decision Quality Instrument; preference concordance, based on rating and ranking of key attributes; and decision quality, defined as having knowledge of 50% or more and preference concordance.ResultsDuring the 20-month period, 214 patients were eligible, 182 were approached, and 32 missed. We enrolled 145 patients (79.7% enrollment rate), and received surveys from 131 patients (72.0% participation rate). Five participants became ineligible. The final study population was 126 patients. Among the 126 women in the study (mean [SD] age, 53.2 [12.1] years), the mean (SD) knowledge score was 58.5% (16.2%) and did not differ by treatment group (mastectomy only, 55.2% [15.0%]; mastectomy with reconstruction, 60.5% [16.5%]). A total of 82 of 123 participants (66.7%) had a calculated treatment preference of mastectomy only; 39 of these women (47.6%) underwent mastectomy only. A total of 41 participants (32.5%) had a calculated treatment preference of mastectomy with reconstruction; 36 of these women (87.8%) underwent mastectomy with reconstruction. Overall, 52 of 120 participants (43.3%) made a high-quality decision. In multivariable analysis, white race/ethnicity (odds ratio [OR], 2.72; 95% CI, 1.00-7.38; P = .05), having private insurance (OR, 1.61; 95% CI, 1.35-1.93; P < .001), having a high school education or less (vs some college) (OR, 4.84; 95% CI, 1.22-19.21; P = .02), having a college degree (vs some college) (OR, 1.95; 95% CI, 1.53-2.49; P < .001), and not having a malignant neoplasm (eg, BRCA carriers) (OR, 3.13; 95% CI, 1.25-7.85; P = .01) were independently associated with making a high-quality decision.Conclusions and relevanceA minority of patients undergoing mastectomy in a single academic center made a high-quality decision about reconstruction. Shared decision making is needed to support decisions about breast reconstruction.

Dataset Information

Breast reconstruction in a patient with Noonan syndrome.

Publications

Breast reconstruction in a patient with Noonan syndrome.

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