Complex association of faciocranial dysmorphism.
Acrocephalopolysyndactyly type I = Noack syndrome.
Acrocephalopolysyndactyly type II = Carpenter syndrome (most common)
Acrocephalopolysyndactyly type III = Sakati-Nyhan syndrome
Acrocephalopolysyndactyly type IV = Goodman syndrome
Autosomal recessive. Gene locus unknown.
Unknown. May be related to accelerated maturation
and premature differentiation of fibroblasts.
Based on the clinical findings at birth and skull
radiography of premature craniosynostosis of cranial sutures.
The need to carefully assess the
airway is obvious when treating a child. Midface hypoplasia with hypoplasia
of the mandible may make mask fit difficult. During direct laryngoscopy, the
larynx often cannot be visualized. Choanal atresia has been linked to these
syndromes, so choanal patency should be checked before nasotracheal
intubation. Radiographic studies of the cervical spine prior to anesthesia
may be helpful. Airway strategies may include fiberoptic intubation, blind
nasal intubation, or a laryngeal mask, but spontaneous ventilation and
oxygenation must be maintained during these attempts. Neurosurgical
complications of the acrocephalopolysyndactyly syndromes are progressive
hydrocephalus, chronic tonsillar herniation, syringomyelia, and, although
uncommon, respiratory standstill. Congenital heart disease must be ruled
out, and pulmonary arterial pressure should be determined by
echocardiography before the patient undergoes anesthesia. Check for visceral
abnormalities before anesthesia.
Maintain spontaneous ventilation until
the airway has been secured. The technical management of the airway must be
prepared before induction of anesthesia. Surgical airway equipment and an
surgeon experienced in airway management must be present in the operating
room at all times.
Succinylcholine and other
neuromuscular relaxants can be used safely. Normal sensitivity to hypnotic
and sedative drugs.
Nargozian C: Apert syndrome. Anesthetic management. Clin Plast Surg
Sculerati N, Gottlieb MD, Chibbaro PD: Airway management in children with
major craniofacial anomalies. Laryngoscope
Noack syndrome is very similar to Pfeiffer syndrome.
Patients present with enlarged thumbs, duplication of the great toes, and
Dominant type of acrocephalopolysyndactyly.
Named after Margot Noack, a 20th-century German physician.
Inherited as an autosomal dominant condition.
The disease involves the hands and feet. Patients
have enlarged thumbs and duplication of the great toes. Moderate
acrocephaly. Considered identical to Pfeiffer syndrome.
Precautions before Anesthesia
Evaluate the head and neck anatomy
in consideration of airway management (reduced size of
nasopharynx, maxilla, mandible, limited mouth opening, 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