Familial Osteodysplasia

Inherited disorder believed to be an autosomal recessive trait. Characterized by midface hypoplasia, malformation of the mandible, hypoplastic zygomatic bones, and abnormally pointed chin.

Anderson Syndrome.

Seems to be extremely rare. Transmission appears to be autosomal recessive. Consanguinity in the parents of the first described patients was noted.

The typical facies has prominent eyebrows and ear lobes and a broad, flat nose with a flat nasal bridge. The forehead is usually quite prominent. The face showed a V-shaped configuration with midface hypoplasia, straightening of the gonial angle (the angle between the ramus and the body of the mandible), flattening of the malar eminences, hypoplastic zygomatic bones, and abnormally pointed chin. The opening of the gonial angle leads to overclosure of the mandible with functional prognathism. Alveolar and sutural bone growth in the face is decreased and associated with partial dental agenesis. Craniosynostosis can occur. Skull radiographs show a striking thinning of the calvaria and brachycephaly. The morphology of the cervical vertebrae may be abnormal, and some degree of thoracic scoliosis seems to be common. The lumbosacral spine, however, was described as normal. Cortical thickening of the bone appears to be a prominent feature, most commonly found in the long bones, which can result in encroachment of the medullary cavity. The ribs and the superior pubic ramus are often thin. Minor changes were found in the bones of clavicles, hand, and feet. In one of the patients, thinning of the mandible led to recurrent mandibular fractures (only in one case with a trauma appropriate enough to explain the fracture). All patients in the initially described family were hyperuricemic but not hyperuricosuric, and no other metabolic abnormalities could be detected. However, increased erythrocyte sedimentation rate (30-40 mm/hour) and C3 complement levels have been reported. The plasma fibrinogen level was low in all family members. Diastolic hypertension was present in three of the four initially described patients. The patients are mentally normal.

Obtain personal medical history for (spontaneous) fractures. Laboratory examinations should include a complete blood cell count (hematopoiesis may be affected by bone marrow encroachment), electrolytes, creatinine, uric acid, and coagulation tests. Ask about spontaneous or prolonged bleeding. Check for difficult airway management (face-mask and tracheal intubation), which should include examination of neck mobility (abnormal cervical vertebrae). If scoliosis is significant, a preoperative lung function test and an echocardiography may be indicated. Assess treatment and efficacy of antihypertensive medication. Check for elevated intracranial pressure in the presence of craniosynostosis.

Expect airway management to be difficult because of the described anomalies. Furthermore, the teeth may be loose and the bone of the mandible fragile, resulting in fracture during overly vigorous laryngoscopy attempts for tracheal intubation. Depending on the degree and extension of scoliosis, central neuraxial blockade may be difficult, although the lumbosacral spine was described as normal. In the presence of craniosynostosis, an anesthetic technique should be used to avoid a further increase in intracranial pressure. Careful positioning and padding are recommended to prevent (the overall probably low risk of) spontaneous fractures.

The patient may be on antihypertensive therapy, so depending on the type of drug and the planned procedure, decide whether the medication needs to be stopped or continued on the day of surgery.

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

Hajdu Cheney Syndrome: Very rare diffuse connective tissue disorder with osteolysis involving mainly head and musculoskeletal system.

Nail-Patella Syndrome: Rare genetic disorder usually apparent at birth or during infancy. Characterized by dysplasia of the fingernails and toenails, aplasia or hypoplasia of the patellae, webbing of skin at the elbow(s), and abnormal bilateral projections of the iliac superior crest. Other features include glaucoma (open-angle glaucoma) and “cloverleaf iris-shaped” (Lester iris). Approximately 30 to 40% may develop nephropathy that usually is apparent during childhood or later in life.

Pyle Disease: Inherited bone dysplasia affecting the enchondral growth of long bones, which results in failure of modeling and causes increased circumference of the ends of the shafts.

Cleidocranial Dysplasia: Generalized skeletal dysplasia resulting in defects in the development of skull, clavicles, pelvis, and dental abnormalities in particular.