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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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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. ...