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Often neonatal lethal syndrome with facial malformations and myopathy with high risk of malignant hyperthermia.

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Noonan-Like Contracture Myopathy Hyperpyrexia.

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Extremly rare syndrome with most likely autosomal recessive inheritance.

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Patients present with short stature and myopathy. Clinical features may involve head and neck (webbed short neck with excess nuchal skin, expressionless face, epicanthic folds, down-slanted fissures, micrognathia, high-vaulted, narrow palate, low-set, posterior ears), and the musculoskeletal system (restricted joint mobility, scoliosis, webbing of joints, symphalangy, abnormal rib structure, abnormal scapula position, terminal hypoplasia of fingers, and camptodactyly). Absent nipples, abnormal scarring, and abnormal dental position can be associated. Death is frequent in neonatal period secondary to respiratory distress.

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No literature is available. Evaluate intubation because of facial malformations and preserve spontaneous ventilation until the airway has been secured. Careful intraoperative positioning because of orthopedic features. Evaluate respiratory function because of skeletal deformations and myopathy. Postoperative ventilatory support may be necessary. Malignant hyperthermia can occur and requires avoidance of all triggering drugs. Volatile agents and succinylcholine therefore are contraindicated. Dantrolene should be easily available.

Kousseff BG, Nichols P: A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and maligant hyperthermia. Birth Defects Orig Artic Ser 21:111, 1985.  [PubMed: 4041573]

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