Genetic disorder with muscular hypoplasia, skeletal
anomalies, increased creatine phosphokinase levels, and abnormal
Camptodactyly with Muscular Hypoplasia, Skeletal
Dysplasia, and Abnormal Palmar Creases Syndrome.
This is an extremely rare
syndrome with autosomal recessive inheritance.
Skeletal dysplasia, muscle hypoplasia,
camptodactyly, and an abnormal dermatoglyphic pattern are the
characteristics of this syndrome. Additional features may include spina
bifida at C1, hypertelorism, long philtrum, and underdevelopment of the
thenar and hypothenar eminences. Increased creatine kinase, abnormal
electromyogram, and muscle biopsy resulted in the proposition that this
condition may primarily be a myopathy. The presence of mitral valve prolapse
has been reported but is not considered a constant feature of this disorder.
One must consider the possibility of
cervical spina bifida (avoid hyperextension of the neck) and the underlying
myopathy. Although no reports exist, it is recommended to administer a
malignant hyperthermia-trigger-free general anesthetic or a locoregional
anesthesia where possible. In presence of mitral valve prolapse, antibiotics
might have to be considered depending on the surgical procedure.
Pagnan NA, Gollop TR, Lederman H: The Tel Hashomer camptodactyly
syndrome: Report of a new case and review of the literature. Am J Med Genet
Patton MA, McDermot KD, Lake BD, et al: Tel Hashomer camptodactyly syndrome:
Report of a case with myopathic features. J Med Genet