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