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At a glance

Congenital disorder of the bone and joints with characteristic facial features. It is a rare rheumatic disease. Thickening of the skin may occur in a fashion similar to scleroderma. The thumbs present lateral valgus deformity. The knees have a genu recurvatum defect. Abnormalities of the upper spinal cord may also occur and the association to laryngeal stenosis must be considered a significant anesthetic consideration.

History

It was first described by the French physician A. Leri in 1921.

Incidence

It is an extremely rare inherited disorder and the incidence remains unknown. It affects males and females in equal numbers. Approximately 20 cases have been reported in the medical literature and most of them outside of North America. The onset of symptoms and physical characteristics usually become apparent during infancy or early childhood.

Genetic inheritance

An autosomal dominant inheritance pattern has been suggested. This medical condition appears associated to over expression of two genes—GDF6 and SDC2. These genes are located on the long arm of chromosome 8 (8q22.1).

Pathophysiology

Etiology unknown. Primary pathology may be in the joint capsules rather than the bone itself. A characteristic feature is bony overgrowth of the cartilaginous skeleton, which produces increased width rather than length of the bones, together with enlargement of the bone ends.

Diagnosis

Based on clinical features. Radiologic features include evidence of delayed bone age, marked broadening of the phalanges with evidence of flexion deformity, increase in width of the vertebrae, and bizarre enlargement of the posterior neural arches of the cervical vertebrae.

Clinical aspects

Short stature; mongoloid facies; brachydactyly; genu recurvatum; short, spade-like hands; broad thumbs in valgus position; thick palmar and forearm fasciae; shuffling, short-stepped gait; decreased joint mobility; and laryngeal stenosis.

Precautions before anesthesia

Assess airway and neck mobility.

Anesthetic considerations

Difficult tracheal intubation must be expected as a result of limited neck movement and laryngeal stenosis limiting airway management.

Pharmacological implications

No known specific pharmacological implications; however, several patients will be on chronic corticosteroid therapy and will require intraoperative supplementation.

Other conditions to be considered

  • Acromicric Dysplasia: Extremely rare medical condition presenting mild facial abnormalities, short hands and feet, and short stature with delayed bone maturation (may be the same disease as ☞Moore-Federman Syndrome). It is characterized by facial features that include abnormally narrow palpebral fissures, and anteverted nares. It results of sporadic mutations. It is also believed inherited as an autosomal dominant genetic trait.

  • Léri-Weill Syndrome: Dominant pseudoautosomal skeletal dysplasia with mesomelic short stature as a result of the loss of one copy of ...

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