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Maple Syrup Urine Disease
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abnormalities absent achondroplasia acid anemia anomalies appearance Arch associated bilateral Birth Defects birth weight bones California San Diego cardiac CARDINAL CLINICAL FEATURES cells characteristic child chromosome cleft CLINICAL PICTURE colobomas congenital Courtesy of Dr creases deformity deletion Dermatoglyphic develop DIFFERENTIAL DIAGNOSIs digits disease disorder distal drome dwarfism dysplasia ears Ehlers-Danlos syndrome epicanthal folds examination revealed extremities eyes facial female fifth finger Genet gonadal hand height hemihypertrophy Hospital hypertelorism hypoplasia hypoplastic inches increased infant involved karyotype Lancet lesions male malformations Marfan syndrome McKusick mental retardation metacarpals microcephaly mosaicism multiple nails nasal bridge Noonan syndrome normal nose occur osteogenesis imperfecta palate patients pattern Pediatr phenotype Physical examination pigmentation polydactyly polyps pregnancy prominent renal reported ribs ridge count Roentgenogram seen skeletal skin skull stenosis syndactyly thanatophoric dwarfism thumb tients tion tissue toes TREATMENT triradius trisomy tumor Turner syndrome urine usually vertebrae xeroderma pigmentosum