A disorder associated with craniosynostosis,
exophthalmia, and palpebral ptosis. Radiography shows an osteogenesis
imperfecta-like aspect of the skeleton.
Four cases have been described.
Autosomal dominant inheritance was suspected. The disorder may be caused by
a defect in the collagen synthesis or structure.
Patients appear normal at birth, but multiple
compression fractures of the long bones are noted soon thereafter, followed
by extensive demineralization with recurrent diaphyseal fractures of the
weight-bearing bones before the first birthday. Short stature, kyphosis, and
scoliosis are other skeletal features. Facial abnormalities may include
facial structural asymmetry, development of marked frontal and temporal
bossing, hypertelorism, short midface, micrognathia, depressed premaxillary
region, shallow orbits with ocular proptosis, blue sclerae, dental
anomalies, and craniosynostosis of the coronal and frontal sutures with
rapidly progressive hydrocephalus. Normal neurologic development has been
reported, but anomalies of crying, voice, and gait and generalized hypotonia
are common. Osteopenia and hypercalcemia is frequent. Hydrops fetalis has
been described in one case.
Preoperative blood work should include a
complete blood count and serum levels of electrolytes including calcium. With the
aforementioned craniofacial anomalies, airway management should be expected
to be difficult. Preservation of spontaneous ventilation until the airway
has been secured is recommended. However, intracranial pressure may already
be raised at the time of presentation for cranial surgery (secondary to
craniosynostosis), requiring a rapid-sequence induction. Succinylcholine is
best avoided because of its associated risk of fractures (fasciculations)
and its negative impact on intracranial pressure. However, only a thorough
clinical examination and review of the radiologic examinations can help in
the decision regarding which induction technique (maintenance of spontaneous
ventilation vs. rapid-sequence induction) is best suited for the patient.
Careful protection of the eyes must be provided since they are at high
risk for corneal damage because of proptosis. Careful intraoperative
positioning is mandatory, secondary to multiple deformations and bone
fragility. Central neuraxial anesthesia techniques are not contraindicated, but can be difficult
to achieve. Local anesthetics should be titrated because of modifications of the
perimedullar space as a result of vertebral compression fractures.
Hypercalcemia should be evaluated to avoid arrhythmias.
Osteogenesis Imperfecta: A group of rare disorders affecting the
connective tissue characterized by extremely fragile bones that
fracture easily during the antenatal and postnatal period (brittle bones).
Amor DJ, Savarirayan R, Schneider AS, et al: A case of Cole-Carpenter
syndrome. Am J Med Genet
Cole DEC, Carpenter TO: Bone fragility, craniosynostosis, ocular
proptosis, hydrocephalus, and distinctive facial features: A newly
recognized type of osteogenesis imperfecta. J Pediatr
MacDermot KD, Buckley B, Van Someren V: Osteopenia, abnormal dentition,
hydrops fetalis and communicating hydrocephalus. Clin Genet