Freeman-Sheldon syndrome--prenatal and postnatal diagnosis
Sridevi S Hegde1, Mitesh S Shetty, B S Rama Murthy
1Department of Medical Genetics, Manipal Hospital Bangalore, Bangalore, India. sridevi.hegde@manipalhealth.com
Indian Journal of Pediatrics
|December 17, 2009
Summary
Freeman-Sheldon syndrome (FSS), or Whistling Face syndrome, is a rare genetic disorder characterized by distinctive facial features and limb abnormalities. Early prenatal diagnosis via ultrasound is crucial for managing this condition.
Area of Science:
- Medical Genetics
- Pediatric Dysmorphology
- Prenatal Diagnosis
Background:
- Freeman-Sheldon syndrome (FSS), also known as Whistling Face syndrome, is a rare congenital disorder.
- It is characterized by a distinctive mask-like face with a small mouth, giving a whistling appearance, and other craniofacial and limb anomalies.
Observation:
- A neonate presented with mask-like facies, deep-set eyes, broad nasal bridge, long philtrum, 'H'-shaped chin dimple, windmill vane hands, and severe talipes equinovarus.
- Prenatal ultrasound at 8 months revealed fetal facial abnormalities, bilateral clenched hands, talipes, and knee extension contractures.
Findings:
- The clinical presentation and prenatal ultrasound findings were characteristic of Freeman-Sheldon syndrome.
- The diagnosis was confirmed postnatally.
Implications:
- This case highlights the importance of recognizing the characteristic features of FSS.
- It emphasizes the utility of prenatal ultrasound in identifying fetal anomalies associated with FSS, particularly in cases of arthrogryposis.
- Early diagnosis facilitates timely intervention and management planning for affected infants.
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