limb malformation leading to
terminal transverse limb
defect in association with congenital heart disease.
Incidence is estimated at
1:30,000-75,000 live births. It is inherited as an autosomal recessive
trait. Also believed that it may be a gonadal mosaicism for a dominant
The defect may be isolated or part of a
malformation syndrome. The severity may vary for a particular segment or as
a result of the number of extremities involved. The etiology of limb
malformations is diverse: they may be sporadic, single gene in origin, or
occasionally the result of chromosome aneuploidy.
Severe terminal transverse defects involving all
extremities, with radiologic evidence that the malformations are not the
intercalary defects associated with the genetic and drug-induced phocomelia
syndromes nor the quadruple amputations seen in Brazilian acheiropody-type
syndrome. The presence of congenital heart malformation confirms the
Echocardiography should be required to
identify any congenital heart defect. The anesthetic and pharmacological
considerations are determined by the cardiac anomaly and function.
Holt-Oram Syndrome: Characterized by an atrial septal defect with
upper limb abnormalities. It is transmitted as an autosomal dominant trait.
Hecht JT, Scott CI Jr: Limb deficiency syndrome in half-sibs. Clin Genet