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Introduction: Costello syndrome is probably an autosomal dominant inherited disorder that is characterized by postnatal growth retardation, developmental delay, coarse facies, loose skin, nonprogressive cardiomyopathy and friendly behavior. The aim of this study was to evaluate a variety of clinical findings and cardiac involvement of six patients diagnosed as Costello syndrome. Materials and Methods: Six cases that had a typical features of Costello syndrome admitted to pediatric cardiology department due to cardiac murmur between 2002-2013 years were evaluated. Their complaints, clinical findings, treatments and clinical courses were examined. Results: Three of the patients were male and the mean age of patients was 34±12 months (7 months to 11 years). All of the cases had coarse faces, deep palmar and plantar creases, hypertelorism, epicanthal folds, depressed nasal bridges and cardiac murmur at auscultation. Congenital heart disease was found in all patients. Five patients had pulmonary stenosis and balloon pulmonary valvuloplasty was performed in 3 of these patients. Atrial septal defect was detected in 3 patients and 1 of the patient had hypertrophic cardiomyopathy. Mental retardation was found in 2 patients. Conclusions: Costello syndrome must be keep in mind in all patients with psychomotor retardation, coarse faces, sparse hairs, deep palmar and plantar creases, phenotypical features resembling a storage disease especially in association with pulmonary stenosis and hypertrophic cardiomyopathy. [ABSTRACT FROM AUTHOR]

Long standing hypothyroidism without therapy leads to myopathy which is associated with proximal muscle weakness, fatigue, exertional pain, pseudohypertrophy due to myoedema, diminished deep tendon reflexes, and stiffness in muscles. Kocher-Debre-Semelaigne syndrome is a specific, rare form of hypothyroid myopathy, which causes hypertrophy of muscles. In this article, we emphasized hypothyroid myopathy by reporting a-13 4/12-year old girl with short stature who was diagnosed with hypothyroidism due to thyroid aplasia that caused pseudohypertrophy of muscles. [ABSTRACT FROM AUTHOR]