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Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive skeletal sclerosis 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.

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

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

Autosomal dominant.

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

Radiologic evidence of progressive skeletal sclerosis (skull, facial bones, and vertebrae), broad clavicles and ribs, short or absent middle phalanges. Diaphyseal undermodeling and midshaft cortical thickening. Retarded skeletal maturation, humeroradial synostosis.

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, advanced paternal age.

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.

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.

No known pharmacological implications for this syndrome.

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, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.

Majewski F: Lenz-Majewski hyperostotic dwarfism: Reexamination of the original patient. Am J Med Genet 93:335, 2000.  [PubMed: 10946362]
Robinow M, Johanson AJ, Smith TH: The Lenz-Majewski hyperostotic dwarfism: A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. J Pediatr 91:417, 1977.  [PubMed: 894410]

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