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

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Hecht-Scott Syndrome.

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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.

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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.

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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.

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Echocardiography should be required to identify any congenital heart defect. The anesthetic and pharmacological considerations are determined by the cardiac anomaly and function.

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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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