Swollen legs and abdomen ...

An 8-year-old boy was admitted via respiratory clinic due to swollen legs and abdomen of 8 months duration and progressive difficulty in breathing for 4 months. His parents noticed an abnormal facial appearance when he was about 3 years old, described as a prominent forehead, protruding eyes and enlarged jaws with thickened skin. He had presented at the Ear, Nose and Throat clinic with complaints of snoring and recurrent ear discharge with resultant hearing impairment. He was on regular follow-up at the ENT outpatient clinic for 5 years without identification of the background dysmorphic features and was subsequently referred to the paediatric pulmonology clinic due to the progressive difficulty in breathing.

Examination

Examination revealed a big head with frontal bossing and caput quadratum, low set ears, depressed nasal bridge, upturned nose, enlarged jaws, protruding tongue, short neck and short stubby digits with papular lesions on the upper trunk. He had inspiratory stridor, was centrally cyanosed, afebrile, not pale, anicteric and had pitting oedema up to the thigh and sacrum. His height was 98cm (81% of expected). He had joint stiffness with the forearms slightly flexed at elbow joints.