title: Stridor in a neonate--is it just a floppy larynx?
abstract: 22q II deletion syndrome, characterized by deletion of long arm of chromosome 22, encompasses a wide range of clinical features, mainly congenital heart defects, facial dysmorphism, palatal defects, feeding problems, immune deficiency and hypocalcaemia. We report a case of 8 days old baby with 4 day history of stridor, feeding problems and vomiting. He was found to have some dysmorphic features and proven to have this deletion syndrome on FISH (Fluorescent In Situ Hybridization) testing. He was then effectively managed by a multi-disciplinary team effort. Clinicians should have low threshold of karyotyping and FISH in a neonate presenting with stridor along with dysmorphic features.
authors.affiliation: Department of Paediatrics, Queen's Hospital, Burton-on-Trent, Staffordshire DE 3 0RB, UK.
authors.forename: K B
authors.initials: KB
authors.lastname: Naeem
authors.forename: Mansoor
authors.initials: M
authors.lastname: Ahmed
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D007830:Larynx; D008297:Male; D010348:Patient Care Team; D012135:Respiratory Sounds