Pediatric Syndromes PDF
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Universitatea de Stat de Medicină și Farmacie „Nicolae Testimițanu”
Ahmed Hammoodi
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Summary
This document provides detailed information on various pediatric syndromes. It covers clinical features, modes of inheritance, and associated conditions of each syndrome.
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AHMED HAMMOODI 'f ic )i ii ' JI ii 2)Trisomy 18 (Edwards syndrome) i< II If 20...
AHMED HAMMOODI 'f ic )i ii ' JI ii 2)Trisomy 18 (Edwards syndrome) i< II If 200 CGG repeats in FMRl gene../ Pre mature ovarian f ailure s) William Syndrome ! Mode of inheritance? ! Laboratory finding ?./ Autosomal dominant./ Hypercalcemia AHMED HAMMOODI./ Microdeletion 7q ! Most common cardiac defect ? ,/ Supravalvular aortic stenosis {80%} ! Clinical features./ Peripheral pulmon ic st enosis./ Long philtrum (Elfin face)./ Pulmonary va lvular st enosis./ Broad mouth../ Short nose with bulbous nasal ! Eye problems ? tip../ Stell at e irises./ Cocktail personality./ Strabismus Pedlotrlc on Squore9./ Mental retardation ! The AAP recommends annual cardiology evaluations for./ Joint laxity patients with Williams syndrome. W'@onsquares 9)Alagille syndrome ! Clinical features Liver biopsy show AHMED HAMMOODI./ Triangular face with pointed chin./ Long nose./ Cholestatic jaundice./ Posterior embryotoxon Paucity of./ Butterfly vertebrae bile duct ! Mode of inheritance?./ Autosomal dominant./ 20p12 deletion Pediatric On Squares./ JAG 1 gene W'@onsquares ------ °''".u"""'"'"""""'·"°-""""-'" - ========================= ! Most common cardiac defect? --- ! ======= ? Treatment ! Peripheral pulmonary artery stenosis I./ Ursodeoxycho lic acid (UDCA) pulmonary valve stenosis./ Liver transplant ~ ' ( ~~ l ~' ~ ~~ 5 10) Cri du chat syndrome ! Clinical features ~~' i~ ~' ~ ri ~n vv u !J ~,,J AHMED HAMMOODI ' II./ High pitched (Cat's like) cry (larynx anatomical changes) n(\ nb d~ x~ 64./ Moon face with wide spaced eyes I).. " (\ ,, II.../ Wide and flat nasal bridge ,,:, ,... ~ x '" ~ j ' "° " (I./ Hypotonia (\ ~./ Down slanting palpebral fissures v './ Microcephaly ! Mode of inheritance?./ Feeding difficulties./ De novo mutation./ Intellectual disabilities./ Sp deletion./ Failure to thrive W'@onSquares MROWI ! Common cardiac defect ? v'VSD, ASD, PDA & TOF Pl)diotri c O.r1 SQUurO$ 11) Wolf Hirschhorn syndrome Clinical features: C· ~11·-t1-·_ , I-.,/ M icrocepha ly AHMED HAMMOODI.,/ Hypertelorism ' 2 tt tt ff tt tt tt tt.,/ Prominent glabella.,/ Frontal bossing ' 10 11 12.,/ Greek helmet face 1T1Ttf tttt;"'lit.,/ Beaked nose.. lout of the ,/ Vascular (vEDS; EDS 9 possible potnts; for children, a positive score IS - "@OnSquares type IV) least 6 O
