23rd May 2025

A 26-year-old male presents with short stature, round face, dental hypoplasia, brachymetacarpals, brachymetatarsals and developmental delay.

A 26-year-old male presents with short stature, round face, dental hypoplasia, brachymetacarpals, brachymetatarsals and developmental delay. His father has the same condition. His blood tests show a normal calcium level, normal phosphate, normal parathyroid hormone.

What is the most likely diagnosis in this patient?

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