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At a glance

A rare disorder characterized by ulnar and fibula dimelia associated with polysyndactyly of the hands and feet in a mirror fashion and nasal anomalies.

Synonyms

Laurin-Sandrow Syndrome; Sandrow Sullivan Steel Syndrome; Duplication of Fibula and Ulna with Absence of Tibia and Radius; Mirror Hands and Feet with Nasal Defects; Tetramelic Mirror-Image Polydactyly; Mirror-Image Polydactyly.

History

First described by Laurin in 1964 and subsequently by Sandrow in 1970.

Incidence

Fewer than 20 patients have been described.

Genetic inheritance

Autosomal dominant.

Pathophysiology

Uncertain. Suggested mechanisms are mutations on MIPOLI: mirror-image Polydactyly gene located on chromosome 14 (14q13). Mutations of the LMBR1 gene on 7q36.3 are also possible.

Diagnosis

Clinical, at birth. The association of polydactyly, absent tibia and radius, and nasal defect (hypoplastic nasal alae, grooved columella) confirm the diagnosis. The presence of mirror-image polydactyly is characteristic.

Clinical aspects

This polymalformative syndrome can be associated with other orthopedic abnormalities: tarsal fusion, wrist anomalies, joint dislocation, syndactyly of toes and fingers, talipes varus/valgus, restricted joint mobility, claw hand/camptodactyly of all fingers, genu valgum, genu recurvatum. Other clinical features are less frequent and can include capillary hemangioma ectopic testes. Life expectancy appears to be normal.

Precautions before anesthesia

Evaluate orthopedic functional status (clinical).

Anesthetic considerations

Intraoperative positioning should be achieved carefully and can be difficult because of deformation and restricted mobility. Blood pressure measurement and venous and arterial access can be difficult because of multiple limb deformations. Regional anesthesia is not contraindicated but can be difficult in presence of skeletal anomalies, especially with neuraxial blockade. Anterior nasal stenosis with respiratory failure has been reported making face-mask ventilation potentially difficult.

Pharmacological implications

There are no known specific implications with this condition.

References

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Kantaputra  PN: Laurin-Sandrow syndrome with additional associated manifestations. Am J Med Genet 98:210, 2001.  [PubMed: 11169557]
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Laurin  CA, Favreau  JC, Labelle  P: Bilateral absence of the radius and tibia with bilateral reduplication of the ulna and fibula: A case report. J Bone Joint Surg Am 46A:137, 1964.
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Marino-Enriquez  A, Lapunzina  P, Omeñaca  F,  et al: Laurin-Sandrow syndrome: Review and redefinition. Am J Med Genet Part A 146A: 2557, 2008.
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Roman  P, Lypka  M: Early surgical correction of the nasal deformity in Laurin-Sandrow syndrome. J Craniofac Surg 28:e126, 2017.  [PubMed: 28234639]
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Sandrow  RE, Sullivan  PD, Steel  HH: Hereditary ulnar and fibular dimelia with peculiar facies: A case report. J Bone Joint Surg Am 52A:367, 1970.

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