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At a glance

Disproportionate moderate dwarfism with Madelung wrist deformity and multiple skeletal deformities. One of the very common skeletal deformities is scoliosis and careful intraoperative positioning may be difficult and special attention to pressure points must be given. It is a rare genetic disorder characterized by a child with a height below the third percentile (P3) for age, gender, and population. Intelligence is unaffected.

Synonyms

Lamy Bienenfeld Syndrome; Leri-Weill Dyschondrosteosis Syndrome; Pleonosteosis.

History

It was first described by A. Léri and J. A. Weill in 1929.

Incidence

The exact incidence remains unknown. It affects both sexes; however, reports in the medical suggest a ratio of 4:1 females when compared to males. Although the prevalence is unknown, it is often given between 1 in 1,000 to 2,000 in the general population.

Genetic inheritance

Pseudoautosomal dominant (mutation in the pseudoautosomal genes SHOX or SHOXY, located on Ypter-p11.2 Xpter-p22.32). It is caused by a heterozygous mutation in SHOX or its regulatory elements (enhancers) located on the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Pseudoautosomal inheritance is an extremely rare occurrence that involves a gene located on both sex chromosomes.

Diagnosis

Disease characterized by bowed radius and ulna, with small stature mainly from mesomelic origin. Can be evocated at the end of fetal growth. It is predominant and more severe in female (female-to-male ratio = 4:1).

Clinical aspects

Stature is short and disproportionate (adult height 135 cm [53.1 inches]). Multiple skeletal deformities are observed. Radiologically the bones present cone epiphyses, enlarged diaphysis, metaphyseal anomaly, and multiple exostoses. Fingers and toes are abnormal. Superior limb anomalies include mesomelia increased carrying angle, limited elbow mobility, dorsal-limited wrist mobility, subluxation of ulna, and Madelung wrist deformity (occurring after 10 years and described as a displacement of the hand to the radial side as the result of dorsolateral distortion of the lower end of the radius because of relative overgrowth of the ulna). Inferior limb can present coxa vara, hip and pelvis anomalies, abnormal femur and patella, genu varum, and flat foot that restricts joint mobility. Scoliosis is frequent. The face presents with a broad nose, depressed nasal bridge, and flat occiput brachycephaly.

Precautions before anesthesia

Although there are multiple skeletal deformities, there are no indications that a difficult airway must be expected. However, it is recommended to assess carefully this aspect.

Anesthetic considerations

Consider chronologic age and not physical stature to determine the airway size. Careful intraoperative positioning is difficult but necessary because of deformations. Regional anesthesia is not contraindicated but can be difficult because of skeletal anomalies. One of the very common skeletal deformities is scoliosis, and careful intraoperative positioning may ...

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