Fetal abnormalities » Extremities
- 1 in 30,000 births.
- Bilateral in 50% of cases.
- Clubhand deformities are subdivided into radial and ulnar:
- Radial clubhand: radial aplasia, acute radial deviation of the hand and absent or hypoplastic thumb.
- Ulnar clubhand: ranges from mild deviation of the hand on the ulnar side of the forearm to complete absence of the ulna.
- Ulnar clubhand is usually an isolated anomaly, whereas, radial clubhand is frequently syndromatic:
- Trisomy 18: radial clabhand is a common finding in this chromosomal abnormality.
- Thrombocytopenia - absent radius (TAR) syndrome: radial aplasia, thumb present, heart defects, micrognathia.
- Holt - Oram syndrome: radial aplasia, syndactyly, heart defects.
- Roberts syndrome: radial aplasia, phocomelia, facial cleft, heart defects.
- VACTER association: radial aplasia or hypoplasia, vertebral abnormalities, ventricular septal defect, tracheoesophageal fistula, anal atresia, renal defects, and single umbilical artery.
- Detailed ultrasound examination.
- Invasive testing for karyotyping and array.
- Follow-up scans every 4 weeks.
- In families with history of TAR syndrome: cordocentesis for diagnosis of hematologic abnormalities.
- Standard obstetric care, but delivery should be in a hospital with neonatal intensive care..
- Depends on the associated condition.
- Surgical treatment and physiotherapy aim to improve mobility, strength, and stability of the forearm and wrist.
- Part of trisomy 18: 1%.
- Part of genetic syndromes: 25% or 50%.