Coffin-Siris syndrome is a rare genetic disorder also known as the “fifth-digit syndrome.” It is characterized by the following features: absent fifth-digit fingernails or hypoplastic fifth-finger terminal phalanx, mental retardation, severe growth retardation, infant feeding difficulties, hypotonia, and coarse facies (1). Administration of general anesthesia in patients who have congenital syndromes such as Coffin-Siris is often a challenge because most of these patients are uncooperative and mentally retarded, and they may have facial malformations that may make intubation difficult. We report a case of a 45-yr-old woman with Coffin-Siris syndrome in whom airway management was problematic.
A 45-yr-old woman diagnosed with Coffin-Siris syndrome was scheduled to undergo dental restoration. Preoperative evaluation revealed classic features of the syndrome. She had reportedly undergone a similar dental procedure during childhood without anesthetic complications. On physical examination, the patient was anxious and slow in responding to commands. She weighed 72 kg and was 142 cm tall. She had the characteristic short fifth digits (Fig. 1), a short neck, thick lips, and macroglossia (Fig. 2 and 3). Airway assessment was Mallampati class 3. The remainder of the physical examination was unremarkable.
Midazolam 2 mg was given IV. Awake fiberoptic intubation was deferred after she became uncooperative. After she breathed oxygen, anesthesia was induced with fentanyl 100 μg, lidocaine 100 mg, and thiopental 250 mg IV. After easy manual ventilations, rocuronium 50 mg IV was given. Nasotracheal intubation was initially attempted with a 6.0-mm endotracheal tube under direct laryngoscopy with a McIntosh number 3. The cords were not visualized even with changes in laryngoscope blades and operators. Blind nasal intubation and orotracheal intubation were also attempted multiple times but without success. The use of a laryngeal mask airway was contemplated; however, this was deferred because of inability to perform surgery with the laryngeal mask airway in place. Mask ventilation was easily accomplished between intubation attempts. Because of the difficulty in securing the airway and the elective nature of the procedure, the case was canceled. After train-of-four twitches in response to neuromuscular monitoring were observed, the neuromuscular block was reversed with glycopyrrolate 0.6 mg and neostigmine 3 mg IV. Thirty minutes later, naloxone 0.2 mg and flumazenil 0.1 mg were also administered to reverse narcotic and benzodiazepine effects. Ventilation via a mask was continued until spontaneous respirations returned, and the patient was transferred to the postanesthesia care unit in stable condition.
During recovery, she received dexamethasone 8 mg and racemic epinephrine via nebulizer. After a period of observation, she was discharged home. Surgery was rescheduled, but the patient was lost to follow-up.
Patients with developmental disabilities or congenital syndromes who undergo surgery present numerous anesthetic challenges. They are frequently uncooperative because of their mental condition. A critical concern, however, is the possibility of a difficult airway caused by craniofacial or orofacial deformities. A number of the more common genetic syndromes are associated with difficult airways. Patients with Down’s syndrome may have subglottic stenosis, macroglossia, and atlanto-axial instability. Patients with Turner’s syndrome may have micrognathia (2). This patient has a condition called Coffin-Siris syndrome, a rare inherited disease that has been reported in only a few patients since 1970. No description of the anesthetic management of this disease has been published.
The differential diagnoses include hypothyroidism, mucopolysaccharidosis, and Cornelia de Lange syndrome. Coffin-Siris is more common in females. Its etiology is unknown, but it is believed to have an autosomal recessive mode of inheritance. Patients with this syndrome are chromosomally normal. The location of the Coffin-Siris gene has tentatively been identified (3–6).
Macroglossia, choanal atresia, abnormal dentition, gastroesophageal reflux disease, and short neck (7–9) are the important features to consider in airway management in Coffin-Siris. Although not administered in the case, antisialagogue premedication, metoclopramide, and H2 blockers are recommended because of the risk of aspiration in these patients.
Most of the reported cases describe infants and children undergoing corrective surgery such as cleft palate repair (8,9). There are no reports of any difficulties or complications related to the delivery of anesthesia. This patient underwent a dental procedure during childhood with no reported difficulties.
Reports on airway management during the induction of anesthesia in adults with Coffin-Siris are few, mainly because the disease is rare and very few adult cases have been reported. Carey and Hall (9) noted that the craniofacial features were unremarkable during infancy and childhood but became dysmorphic as the child grew. We suggest that the structural changes in facial anatomy seen as these patients age lead to increased likelihood of a difficult airway. This assumption remains to be proved.
In retrospect, an awake fiberoptic intubation could have been attempted at the onset with deeper sedation if spontaneous respirations could be maintained. Alternatively, general anesthesia could have been induced and intubation performed via fiberoptic technique or an intubating laryngeal mask airway. This was not available at the time of the case.
In conclusion, Coffin-Siris syndrome is a rare congenital syndrome with characteristic facial features that may lead to difficult intubation. The potential for a difficult airway caused by a short neck, large tongue and lips, and poor dentition should always be considered. Equipment for managing the difficult airway should be readily available.
The authors thank Dr. Rebecca Twersky for reviewing the manuscript.
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