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At a glance

It is characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive skeletal osteosclerosis with severe growth retardation and a progeroid appearance. Other clinical features include dysplastic teeth, skin hypoplasia joint laxity, choanal atresia, short digits, and partial syndactyly.

Synonyms

Braham-Lenz Syndrome; Lenz Syndrome I; Lenz-Majewski Hyperostotic Dwarfism.

History

First described by Braham in 1969 as Camurati-Engelmann Syndrome.

Genetic inheritance

It is presumed inherited as an autosomal dominant pattern. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals.

Pathophysiology

Nature of the disorder is obscure. Possibly caused by a dominant mutation leading to disturbance of connective tissue.

Diagnosis

Radiologic evidence of progressive skeletal sclerosis (skull, facial bones, and vertebrae), broad clavicles and ribs, and short or absent middle phalanges. The presence of diaphyseal undermodeling and midshaft cortical thickening confirms the diagnosis. It is associated with delayed skeletal maturation and humeroradial synostosis.

Clinical aspects

Delayed closure of fontanelle, proximal symphalangism short digits, partial syndactyly, prominent cutaneous veins, loose and wrinkled atrophic skin of hands, skin hypoplasia mental retardation, progeroid appearance, dysplastic dental enamel joint laxity, choanal atresia, nasolacrimal duct obstruction, sporadic occurrence, and advanced paternal age.

Precautions before anesthesia

No specific precautions before anesthesia have been reported for this medical condition. Because of the progeroid appearance, it is recommended to review carefully the history and physical characteristics for possible association of anomalies with the cardiovascular system and the airway. However, these possible complications are not directly related to the description of this syndrome but are considered circumstantial.

Anesthetic considerations

No specific anesthetic considerations for this medical condition rather than the usual patient management. However, positioning might require special attention because of the leg problems and the exquisite pain manifested by the patient.

Pharmacological implications

No known pharmacological implications for this syndrome.

Other conditions to be considered

  • Camurati-Engelmann Disease: Characterized by diaphyseal dysplasia, bone pain most often in the legs, skeletal abnormalities, and a “waddling” gait caused by severe hypoplasia of various muscles in the legs. It may become apparent as early as age 3 months or as late as the sixth decade of life. In some cases, fatigue, headaches, poor appetite, exophthalmos, reduced subcutaneous fat, and hepatosplenomegaly have been reported. It is inherited as an autosomal dominant trait and is the result of a mutation in the beta 1-LAP gene.

  • Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia), failure to thrive, mental retardation, ...

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