Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype Down Syndrome (Trisomy 21 Syndrome)Hypotonia, Flat Facies, Slanted Palpebral Fissures, Small Ears Down’s report in 1866 on the ethnic classification of idiots stated…
Cornelia de Lange syndrome (Brachmann–De Lange Syndrome) Synophrys, Thin Downturning Upper Lip, Micromelia The syndrome was originally reported in 1933 by Cornelia de Lange, although Brachmann described a child with…
1p36 Deletion Syndrome (Monosomy 1p36 Deletion Syndrome) Large Anterior Fontanel, Deep-Set Eyes, Pointed Chin First delineated in 1997 as a recognizable pattern of malformation, monosomy 1p36 is the most commonly…
CHAPTER 14 CHEST PAIN DEBRA BOYERLIANNE KOPEL DEFINITION OF THE COMPLAINT Chest pain is a relatively common complaint in children with a frequency of 0.6% of pediatric emergency room visits….
CHAPTER 13 NECK SWELLING STEPHEN LUDWIGBRANDON C. KU DEFINITION Neck swelling in children is a finding that elicits immediate parental concern and often prompts a visit to the physician. The…
