Williams Syndrome is described in children presenting with Supra-valvular Aortic Stenosis (SVAS) and typical dysmorphic 'Elfin facies' with characteristic neurocognitive profile. SVAS, a congenital narrowing of the ascending aorta, occurs sporadically but can also occur as a component of Williams Syndrome, with which it shares similar genetic microdeletion of the elastin gene on chromosome 7qll.23, responsible for the vasculopathy as well as certain morphological features of the syndrome. We report the case of a 5 year old girl, who presented with chest pain and a heart murmur, along with typical 'Elfinfacies', whose investigation led to the diagnosis of SVAS presenting with Williams Syndrome.
Ibrahim Cardiac Med J 2014; 4(1): 42-47
Truncus arteriosus communis (TAC) is a rare heart disorder with the prevalence of approximately 1%, mostly in male newborns with congenital heart defect (CHD). In this disease, aorta and pulmonary artery have not separated during fetal development and both originate jointly from a truncal vessel. In addition, various disorders are reported as associations of mitral and tricuspid valve defects, atrial septal defect (ASD), pulmonary hypertension, increase in heart rate and discharge syndrome.
Ibrahim Cardiac Med J 2014; 4(2): 68-71
IntroductionSkin comprises about 15% of the total body weight 1 . Infants have a higher surface area-to-volume ratio in comparison to older children & adults. There are important structural and physiological differences between skin of adult and that of infant, the function of skin remaining essentially the same at all phases of life, including: barrier, photo-protection, thermoregulation, immune surveillance, vitamin synthesis, prevention of insensible fluid loss, and sensory perception. 2 Infant skin is found to have higher water content and is able to absorb more water and lose excess water faster than adult skin. Micro structural difference relates to thinner stratum corneum and papillary dermis in infant skin. 3 There is greatly increased mortality of premature infants due to microbial invasion with impaired barrier function. 4 The stratum corneum of infant is 10-15micron thick.
Pattern of Dermatologic Disorders in Infants
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