Freeman-Sheldon syndrome: report of one case

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Freeman-Sheldon syndrome is a rare congenital disorder characterized by craniofacial and limb abnormalities.
• Diagnosis is primarily clinical, based on distinctive facial features and skeletal malformations.
• While genetically heterogeneous, most cases are considered sporadic.

Observation:

• A full-term male newborn in Taiwan, with normal prenatal screening, presented with classic Freeman-Sheldon syndrome features postnatally.
• The infant exhibited rare co-occurring conditions: blepharosynechia, congenital heart disease, and abnormal electroencephalography.
• Brain MRI revealed normal development despite the syndrome's complexities.

Findings:

• The patient experienced mild respiratory and feeding difficulties, requiring nasogastric tube feeding.
• Despite initial stability, the infant tragically expired at two months of age.
• Autopsy was declined by the parents, limiting further pathological investigation.

Implications:

• This case expands the known clinical spectrum of Freeman-Sheldon syndrome, particularly regarding associated anomalies.
• It underscores the importance of comprehensive evaluation in newborns diagnosed with rare genetic disorders.
• Further research into the genetic basis and long-term management of Freeman-Sheldon syndrome is warranted.