Desbuquois Syndrome

Autosomal recessive osteochondrodysplastic disease with typical skeletal anomalies and high mortality in the first year of life.

Desbuquois Dysplasia; Desbuquois Grenier Michel Syndrome; Micromelic Dwarfism with Vertebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification.

Exact incidence is unknown. Approximately 40 cases have been described in the literature.

Autosomal recessive. The gene has not been identified.

Cause of dwarfism is not understood. Because of a strong radiologic similarity with diastrophic dysplasia, abnormalities in the diastrophic dysplasia sulfate transporter gene have been sought but were not found in Desbuquois syndrome.

Made by the clinical picture plus distinct radiologic findings at the femoral neck (“monkey wrench” or “Swedish key” appearance), advanced carpal bone age, and a supernumerary ossicle at the base of the second phalanx in some patients.

High variability in the expression of the syndrome. Facial features consist of microcephaly with a round, flat profiled face, early closure of the fontanelles, micrognathia, cleft palate, depressed nasal bridge, short neck, glaucoma, proptosis, and blue sclerae. Orthopedic anomalies are micromelic dwarfism, scoliosis, and abnormal joint laxity resulting in recurrent luxations of hip and patella. Infants may show some distinctive additional skeletal signs, which may disappear after the first year of life and include coronal clefts in thoracolumbar vertebrae, and extra ossification centers, most often in the area of the metacarpophalangeal joint of the index finger, resulting in supernumerary phalanges and deviation of the fingers. The chest appears narrow and “funnel” shaped, and the abdominal wall is hypoplastic. These children are mentally retarded and approximately one third of them die in early infancy, most commonly as a result of respiratory infections. Some also suffer from obstructive sleep apnea syndrome. Ventricular septal defect, tracheomalacia, and laryngomalacia have been reported, with the latter two findings requiring tracheotomy in at least one patient. Long-term problems of these children include worsening joint problems, chest and spine deformities, recurrent aspiration pneumonias, and progressive psychomotor developmental delay.

Careful assessment of the respiratory status is required. Inquire about sleep apnea, examine clinically and radiologically for chest infection and atelectasis, and treat as necessary. Consider assessment of arterial blood gases. Echocardiography may be necessary to exclude congenital cardiac lesions.

No literature on anesthesia for these patients was found. Patients may present most often for surgery of glaucoma and joint dislocations. Airway management may be challenging in some patients because of short neck and facial anomalies. Pulmonary ventilation and oxygenation may be difficult as a result of the restrictive nature of the chest deformity and preexisting collapse and consolidation. Neuraxial blockade not only may be difficult but also dangerous if vertebral abnormalities are present. Radiologic examination of the spine may be helpful. Careful positioning is required to prevent luxation of the joints (especially hip). Because of the high mortality associated with this syndrome in the first year of life (33%), some authors suggest routine use of apnea, bradycardia, and oxygen saturation monitoring of these patients. This is especially true in the postoperative period when prolonged observation may be required. Nasal continuous positive airway pressure may be helpful in milder cases of tracheomalacia and laryngomalacia.

Careful use of opioids in view of obstructive sleep apnea syndrome is required. Antibioprophylaxis in case of cardiac defect.

Diastrophic Dysplasia: Autosomal recessive inherited form of short-limb dwarfism associated with spine anomalies.

Larsen Syndrome: Congenital dysmorphic syndrome associated with characteristic anomalies of face, hand, and feet, and multiple congenital dislocations. Spine, airway, and cardiac abnormalities.

Catel-Manzke Syndrome (Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome; Index Finger Anomaly with Pierre Robin Syndrome; Palatodigital Syndrome): X-linked recessive disorder characterized by micrognathia, high arched palate, cleft palate/lip, Robin anomaly, glossoptosis, malformed ears, and short neck. Other features include cardiovascular anomalies (ventricular septal defect, aortic coarctation, dextrocardia), pectus carinatum or excavatum, seizures, joint laxity and dislocations, hyperphalangy of index finger, fifth finger clinodactyly, single transverse palmar crease, and talipes equinovarus.