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Genetically transmitted limb malformation leading to terminal transverse limb defect in association with congenital heart disease.

Hecht-Scott Syndrome.

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 mutation.

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 diagnosis.

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 20:432, 1981.  [PubMed: 7337959]

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