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At a glance

Complex multiple anomalies syndrome resulting from blastogenesis defect with association of neonatal surgical defects and neurological and orthopedic anomalies. Cardiac and pulmonary lesions can also occur.

Synonyms

Axial Mesodermal Dysplasia Spectrum; Blastogenesis Defect.

History

First described by L. J. Russell, D. D. Weaver, and M. J. Bull in 1981.

Genetic inheritance

Unknown.

Incidence

Very rare, only limited case reports.

Diagnosis

This polydysmorphic syndrome is often lethal. Evocation of the diagnosis on the clinical signs present at birth (facial deformations associated with multiple malformations).

Clinical aspects

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 frequently observed (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. Survival into adolescence has been described.

Precautions before anesthesia

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, calcemia, urea).

Anesthetic considerations

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 invasive monitoring. Perioperative fluid management should be carefully evaluated considering renal function. Perimedullar anesthesia should be avoided in cases of vertebral anomaly.

Pharmacological implications

Prophylactic antibiotics should be used according to endocarditis prophylaxis guidelines. Anesthetic drug choice should consider renal and hepatic functions.

References

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Kim  KW, Seo  JH, Ko  MH,  et al: A wide spectrum of axial mesodermal dysplasia complex with rhombencephalic anomaly: A case report. Ann Rehabil Med 40:162, 2016.  [PubMed: 26949683]
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Russell  LJ, Weaver  DD, Bull  MJ: The axial mesodermal dysplasia spectrum. Pediatrics 67(2):176, 1981.  [PubMed: 7243441]

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