The hand in the Pierre Robin syndrome

Area of Science:

• Pediatric Genetics
• Developmental Biology
• Clinical Dysmorphology

Background:

• Pierre Robin syndrome is characterized by micrognathia, glossoptosis, and airway obstruction.
• Limb abnormalities are not typically considered a primary feature of Pierre Robin syndrome.

Purpose of the Study:

• To investigate the occurrence and spectrum of extremity abnormalities in children diagnosed with Pierre Robin syndrome.
• To document hand malformations that may be associated with Pierre Robin syndrome.

Main Methods:

• Retrospective review of eight pediatric cases diagnosed with Pierre Robin syndrome.
• Clinical examination and documentation of physical findings, focusing on limb and extremity morphology.

Main Results:

• Three out of eight patients (37.5%) exhibited significant abnormalities of the extremities.
• Observed abnormalities included syndactyly (webbed fingers/toes), hypoplastic digits (underdeveloped fingers/toes), and Poland syndrome (chest wall and upper limb malformation).
• These specific hand and extremity findings were not previously emphasized in the literature for Pierre Robin syndrome.

Conclusions:

• Extremity and hand abnormalities may be more common in Pierre Robin syndrome than previously recognized.
• Clinicians should consider evaluating for limb malformations in children with Pierre Robin syndrome.
• Further research is warranted to understand the genetic and developmental links between Pierre Robin syndrome and limb anomalies.