Group of diseases characterized by craniofacial
anomalies resulting from premature sutural craniosynostosis and hand and
foot anomalies consisting primarily of brachydactyly, syndactyly, and
polysyndactyly. A number of different subtypes exist but considerable
phenotypic overlap occurs, so investigators now consider many of these
syndromes to represent variants of the same disease. The classification into
subtypes in the literature is conflicting. Furthermore, the classification
of acrocephalosyndactyly versus acrocephalopolysyndactyly is regarded by
many as a pseudodistinction.
Acrocephalosyndactyly syndromes are characterized by
craniosynostosis, dysmorphic facial features, and severe syndactyly of the
hands and feet.
Acrocephalosyndactyly syndromes classically have
been divided into five subtypes:
Acrocephalosyndactyly Type I = Apert syndrome
Acrocephalosyndactyly Type II = Apert-Crouzon syndrome (most common)
Acrocephalosyndactyly Type III = Saethre-Chotzen syndrome
Acrocephalosyndactyly Type V = Pfeiffer syndrome
Autosomal dominant. Increased paternal age is
considered a risk factor.
These syndromes result from mutations in the gene
encoding FGFR-2. The responsible gene has been mapped to 10q26. The defect
causes abnormal osseous development resulting in irregular bridging of the
mesenchymal tissue that eventually forms bone. The cranium and distal
extremities are predominantly affected.
Based on clinical findings. Radiographic examinations
confirm osseous abnormalities.
Evaluate the head and neck anatomy
in consideration of airway management (reduced size of nasopharynx, maxilla,
mandible, anomalies of the palate and tracheal cartilage, combined with
cervical spine abnormalities, may lead to difficult airway management).
Radiographs of the cervical spine may be helpful in the evaluation process.
Request echocardiography for patients with congenital cardiac lesions.
Because up to one third of the children affected with these conditions
present with intraoperative respiratory problems, recent upper respiratory
infections might require cancellation of the procedure in
these patients in the presence of an
active or recent upper airway infection should be low. Preoperative chest
radiograph may be helpful. Preoperative blood workup should include a
complete blood count, electrolytes, creatinine, and BUN. Keep in mind that
the incidence of increased intracranial pressure is 15% with one fused
suture and increases to 35% with two or more sutures affected.
Mental retardation may lead to poor
cooperation upon separation from the parents or during induction of
anesthesia. Difficult airway management should be expected. Maintenance of
spontaneous ventilation and oxygenation during attempts to control the
airway is strongly recommended. Be prepared to use alternative techniques to
manage the airway (laryngeal mask, fiberoptic intubation). A surgeon
familiar with surgical airway management and the necessary equipment should
always be present in the operating room. Specific anesthetic measures might be
required in the presence of congenital heart disease or increased intracranial
pressure. The eyes must be carefully protected because of the high risk for
corneal damage as a result of proptosis.
Sedative premedication in patients
with increased intracranial pressure should be used with caution and under
supervision of trained personnel only. Hypotensive anesthesia is most often
achieved using ...