KBG syndrome presenting with brachydactyly type E.

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Brachydactyly type E, short stature, and developmental delay are key features of several genetic syndromes.
• Differential diagnoses for these features include Albright hereditary osteodystrophy, 2q37 microdeletion syndrome, and acrodysostosis.
• KBG syndrome is a rare genetic disorder characterized by distinct skeletal abnormalities and developmental issues.

Purpose of the Study:

• To report a case of KBG syndrome presenting with syndromic brachydactyly type E.
• To highlight the diagnostic utility of whole genome sequencing in identifying genetic causes of complex phenotypes.
• To suggest KBG syndrome as a differential diagnosis in similar clinical presentations.

Main Methods:

• Clinical evaluation of a young female patient presenting with specific physical characteristics.
• Biochemical and hormonal profiling.
• Genetic analysis including karyotyping, FISH, and whole genome sequencing (WGS).

Main Results:

• The patient presented with short stature (tenth centile), brachydactyly type E, and mild developmental delay.
• Biochemistry and hormonal profiles were within normal limits.
• Whole genome sequencing identified a pathogenic mutation in the ANKRD11 gene, confirming the diagnosis of KBG syndrome.

Conclusions:

• KBG syndrome should be considered in the differential diagnosis of syndromic brachydactyly type E, particularly when accompanied by short stature and developmental delay.
• Whole genome sequencing is a valuable tool for diagnosing rare genetic disorders like KBG syndrome.
• Early diagnosis of KBG syndrome can facilitate appropriate management and genetic counseling.