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A very rare autosomal recessive condition manifested by a combination of muscle stiffness (hypertrophied muscle) and mild, largely nonprogressive muscle weakness (myotonia). Onset age is during the first year of life. Other clinical features include mostly ophthalmological anomalies and a pectus carinatum.

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Catel-Schwartz-Jampel Syndrome; Schwartz-Jampel-Aberfeld Syndrome; Chondrodystrophia Myotonia.

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Autosomal recessive.

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Three types are recognized. Type Ia is usually recognized in childhood and is associated with moderate bone dysplasia. Type IB is recognized at birth and is associated with more pronounced bone dysplasia. Type II is recognized at birth and is associated with increased mortality. The SJS-I locus (1p34-p36) maps to a region that contains the gene encoding perlecan (HSPG2). This heparan sulphate proteoglycan is highly expressed in cartilage and basement membranes. Three mutations in this gene have been described in families with this syndrome. Contractures are most severe by mid-adolescence.

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Problems with the motor development become evident during the first year of life. The characteristic dysmorphic features lead to an early diagnosis.

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Features include facial malformations (microstomia, micrognathia, retrognathia, blepharophimosis, short palpebral fissures, telecanthus, sad “fixed” facies, low-set ears, short neck), and musculoskeletal signs (myopathy, myotonia, muscular hypertrophy, restricted joint mobility, osteoporosis, dislocated hip, delayed bone age, epiphyseal anomaly, kyphosis, scoliosis, pectus carinatum, abnormal vertebral size/shape, anterior bowing of the long bones). Mental retardation (20%) and areflexia/hyporeflexia are described. Short stature, intrauterine growth retardation, myopia, cataract, umbilical hernia, generalized hirsutism, feeding and swallowing difficulties, and recurrent hyperthermia may be observed.

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An anesthesiology consultation is highly recommended before elective surgery. Detailed examination of the airway. Evaluate the extent of the myopathy.

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The airway features suggest that face-mask ventilation, direct laryngoscopy and tracheal intubation may be difficult. Until confirmation that proper lung ventilation can be maintained, either with face-mask or following tracheal intubation, spontaneous respiration should be maintained. Vascular access and positioning may be difficult because of joint contractures.

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Succinylcholine should be used with caution or simply avoided in the presence of a myopathy because of the risk of hyperkaliemia and malignant hyperpyrexia.

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Stuve-Wiedmann Syndrome (Schwartz-Jampel Syndrome type II; Schwartz-Jampel Syndrome Neonatal form; Stuve-Wiedmann-Schwartz-Jampel Syndrome): Characterized by congenital bowing of the long bones, short stature, camptodactyly with ulnar deviation and contractures of the elbows and fingers. Radiographically the long bones were short and thick with large metaphyses, a broad coracoid process bilaterally, long scapulae, relatively thin ribs, pubic and ischial bones broad and the ilia relatively small. Other features include susceptibility to respiratory problems and hyperthermia (suspicion of malignant hyperthermia).

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Marden-Walker Syndrome: A rare connective tissue disorder that is inherited as an autosomal recessive transmission. The clinical features include craniofacial anomalies (mask-like face), micrognathia, ptosis, blepharophimosis, cleft palate, and cleft lip. In addition, joint contractures, kyphoscoliosis and pectus carinatum have been reported.

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King-Denborough Syndrome: An extremely rare disorder and a form of Malignant Hyperthermia. ...

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