Often neonatal lethal syndrome with facial
malformations and myopathy with high risk of malignant hyperthermia.
Noonan-Like Contracture Myopathy Hyperpyrexia.
Extremly rare syndrome with most likely
autosomal recessive inheritance.
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.
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
Kousseff BG, Nichols P: A new autosomal recessive syndrome with Noonan-like phenotype,
myopathy with congenital contractures and maligant hyperthermia. Birth Defects Orig Artic