4th March 2024

A 6-year-old female is under investigation for a genetic condition

A 6-year-old female is under investigation for a genetic condition. Her 20-week scan showed an increased nuchal translucency. Further genetic tests were declined at this time. A crescendo systolic murmur, worse on inspiration, was noted along the ˢᵉᶜᵒⁿᵈ intercostal space on examination shortly after birth. She had a cystic hygroma following birth, and this was surgically excised.

She was diagnosed with bilateral sensorineural hearing loss. She easily bruises after minor injuries. On examination, she appears to have a short stature for her age. She has low-set ears with a high forehead, widely spaced eyes, down-sloping palpebral fissures, a webbed neck and a blue iris. Pectus excavatum was also noted. Oedema along her forearms and calf were noted. Examination of her elbows shows a wide carrying angle.

Which of the following conditions is the likely underlying diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.