Complex multiple anomalies syndrome resulting from
blastogenesis defect with association of neonatal surgical defects and
neurological and orthopedic anomalies. Cardiac and pulmonary lesions can
Axial Mesodermal Dysplasia Spectrum Blastogenesis Defect.
First described by L.J. Russell, D.D. Weaver, and M.J. Bull
This polydysmorphic syndrome is often lethal. Evocation
of the diagnosis on the clinical signs present at birth (facial deformations
associated with multiple malformations).
Features of both the Goldenhar and the Caudal
Regression Syndromes are observed. Antenatal period anomalies are frequent
and often associated with oligoamnios and prematurity. Patients present with
short stature and neurological anomalies (cerebral cortex atrophy,
hydrocephalus). Neonatal lesions can include diaphragmatic hernia,
omphalocele, and tracheoesophageal fistula. Orthopedic features are multiple:
scoliosis, short neck, skeletal, vertebral and joint anomalies, sacrococcyx
agenesia, talipes varus or valgus. Facial deformations are also frequent
with micrognathia, facial structural asymmetry, preauricular tags, and
thickened gingivae. Other signs concern digestive organs (hiatal hernia,
anus, spleen, liver, biliary and gastrointestinal tract anomalies), and
genitourinary structures (abnormal bladder and genitalia ectopic,
horseshoe-shaped or fused kidney, megaureter). Hypoplastic lungs and
ventricular septal defects are also present in some cases.
Evaluate cardiac and respiratory
function (clinical, ECG, echocardiography, arterial blood gas analysis, chest
radiograph, and, if necessary, CT scan). Airway (clinical,
fiberoptic, radiography); and liver and renal status (echography, CT,
laboratory investigation: serum glutamic-oxaloacetic transaminase, serum
glutamic-pyruvic transaminase, bilirubin, coagulation, kaliemia, natremia,
Direct laryngoscopy and tracheal
intubation can be very difficult because of facial and vertebral (cervical spine)
anomalies. Aspiration risks exist because of digestive malformations. Cardiac anomalies
will dictate management and proper monitoring. Perioperative fluid
management should be carefully evaluated considering renal function.
Perimedullar anesthesia should be avoided in cases of vertebral anomaly.
Prophylactic antibiotics should be
used in cases of cardiopathy. Anesthetic drug choice should consider renal
and hepatic functions.
Russell LJ, Weaver DD, Bull MJ: The axial mesodermal dysplasia spectrum.
Pediatrics 67(2):176, 1981.