Rare congenital disorder constituting about one third
of cases of Arthrogryposis Multiplex Congenita characterized by
multiple contractures of joints.
Guérin-Stern Syndrome; Otto Syndrome; Rocher-Sheldon
Syndrome; Rossi Syndrome; Congenital Arthromyodysplastic Syndrome;
Myodysplasia Foetalis Deformans; Myodystrophia Foetalis Deformans.
Congenital disorder that may result from an intrauterine
vascular accident affecting the fetal spinal cord.
Sporadic cases. Incidence is approximately
1:10,000 live births. Higher incidence is found in twins.
Unknown. Two forms have been described:
1. Neuropathic form in which anterior horn cells
are reduced in number, pyramidal tract and motor roots are demyelinated, and
axons in peripheral nerves are reduced.
2. Myopathic form in which joint deformities result
from lack of movements in utero.
Based on clinical findings at birth in a child with
contracture of numerous joints in a flexed position (arthrogryposis),
hypoplasia of the attached musculature, and development of multiple pterygia
in affected joints. In approximately two thirds of patients, all four limbs
are affected; in approximately one fourth of patients, the lower extremities
are more severely affected than the arms; and in the remaining cases, the
arms are more severely affected than the lower extremities. The term
amyoplasia refers to replacement of muscles by fibrous tissue in different areas.
Intelligence in these patients is normal. Common
features involve the head and neck (low-set ears, ptosis, limited eye
movements laterally and upward, abnormal retinal pigmentation, flattened
nose, round facies, frontal midline capillary hemangioma, micrognathia,
cleft palate), skeleton (scoliosis, dislocated hips, internally rotated and
adducted shoulders, fixed extended elbows, wrist deformities consisting of
flexion and ulnar deviation, talipes varus, syndactyly, camptodactyly,
amputation of digits), gastrointestinal tract (gastroschisis, intestinal
atresia, hypertrophic pyloric stenosis, gastric ulcers), and chest
(hypoplastic lungs, diaphragmatic hernia, hydrothorax). Lymphedema has been
Evaluate respiratory function
(clinical, chest radiographs, pulmonary function tests if possible, arterial
blood gases analysis, CT scans). Assess for difficult airway management
(micrognathia, cleft palate).
Tracheal intubation may be difficult and
may require adapted anesthetic management. Spontaneous ventilation should be
maintained until the airway is secured. If significant, pleural effusions
should be drained preoperatively. Postoperative mechanical ventilatory
support may be necessary and should be arranged beforehand. Careful
intraoperative positioning is mandatory and can be challenging secondary to
limited joint mobility. Complications resulting from positioning, such as
pressure sores and fractures, have been described. Venous access can be
difficult with all the contractures. Avoid bag-mask ventilation in the
presence of diaphragmatic hernia.
Muscle deficiency and respiratory
function may require lower doses of muscle relaxants. Opioids should be used
judiciously. No relation between malignant hyperthermia and arthrogryposis
syndromes has been demonstrated. However, hyperpyrexia and hypermetabolism
have been described in association with volatile anesthetics, although these
reactions were thought to be distinct from malignant hyperthermia.
Sells JM, Jaffe KM, Hall ...