The deletion 22q13 syndrome: a new case

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Phelan-McDermid syndrome is a microdeletion disorder on chromosome 22q13.3.
• It is characterized by neonatal hypotonia, global developmental delay, and absent/delayed speech.
• The SHANK3 gene is a critical region within the deleted locus.

Observation:

• The case presented at 8 months with delayed psychomotor development, hypotonia, and autistic features.
• Clinical examination revealed specific dysmorphic features including a small forehead, long eyelashes, epicanthal folds, low-set ears, and broad hands/feet.
• The infant exhibited poor eye contact and inability to sit unsupported.

Findings:

• The patient displayed a constellation of symptoms consistent with Phelan-McDermid syndrome.
• Physical and developmental findings align with previously described Phelan-McDermid syndrome phenotypes.
• The case underscores the importance of recognizing characteristic features for early diagnosis.

Implications:

• Early diagnosis of Phelan-McDermid syndrome facilitates timely intervention and support.
• Understanding the SHANK3 gene's role is crucial for targeted therapies.
• Further research into 22q13.3 deletions can improve management strategies for affected individuals.