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
First described by Braham in 1969 as Camurati-Engelmann
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
Majewski F: Lenz-Majewski hyperostotic dwarfism: Reexamination of the
original patient. Am J Med Genet
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