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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: Autosomal recessive, caused by mutations in HSPG2, encoding perlecan. Perlecan is a ubiquitous heparan sulphate proteoglycan, which is involved in chondrocyte proliferation and in cartilage matrix structure. Perlecan is a coreceptor for FGF2. Mutations in the same gene also cause Schwartz-Jampel syndrome type 1.
Diseases of Muscle and the Neuromuscular Junction
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Chris Turner, Anthony Schapira
The Schwartz–Jampel syndrome is a rare disorder which usually presents within the first three years of life, with muscle stiffness, particularly affecting the face and thighs. Children, who are often of small stature, have multiple skeletal deformities including platyspondylosis, muscle contractures, facial features, including blepharophimosis, pursed lips, small mouth and micrognathia, myopia and cataracts, and myokymia of the chin. Other dysmorphic features include low set ears, a crouched stance and a waddling gait. The disorder may be associated with mild mental retardation.
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by generalized myotonia, limited joint mobility, skeletal abnormalities, and mask-like facies characterized by contracture of the periocular and perioral muscles, ptosis, and blepharophimosis. Malignant hyperthermia is a potentially lethal complication of anesthesia.62–64