Clinical presentation A 5-year-old boy presented with an intellectual disability. Medical history Asthma Mild autism Attention-deficit hyperactivity disorder (ADHD) Physical examination Triangular face with high anterior hairline Widely spread eyes Conical teeth and short chin Lack of eye contact Presence of dry skin in the pretibial and abdomen areas Figure 1. Dry and scaly skin seen on (a) the pretibial area and, (b) the abdomen (Source: Case Reports in Genetics) Laboratory examination Elevated human growth hormone- 1.6 ng/ml Chromosomal microarray (CMA)- 1.7 Mb deletion at Xp22.31 Figure 2.
(a) Chromosomal microarray demonstrating a 1.7 Mb deletion, (b) Deletion seen at Xp22.31 (Source: Case Reports in Genetics) What can be the probable diagnosis in this case? Ichthyosis congenita X-linked Ichthyosis Darier disease Netherton syndrome (Answer is posted in the comment section below!)…
