Krauss-Herman-Holmes Syndrome

At a glance

It is a malformative syndrome characterized by skeletal abnormalities, especially hypoplasia of carpal bones and facial features including microstomia, and micrognathia. Other features include telecanthus, hypertelorism, strabismus, and pes cavus syndrome.

Synonym

Carpal Deformity Micrognathia Microstomia Syndrome.

Incidence

Two cases have been reported from the same family, ie, a mother and her son.

Genetic inheritance

Presumed as an autosomal dominant inheritance.

Clinical aspects

Main feature is a unilateral congenital hypoplasia of the proximal row of carpal bones in the right hand. Dysplasia of the distal carpal bones, radius, and ulna on the right side were also present. Both patients had marked micrognathia, high-arched palate, and small mouth opening (microstomia). However, several otherwise healthy family members (ie, no limb abnormalities) were retrognathic, thus, it is difficult to unequivocally link this feature to the congenital carpal bone hypoplasia.

Anesthetic considerations

Primary concern is the potential for difficult direct laryngoscopy and tracheal intubation because of the retrognathia and microstomia. The patient should be kept spontaneously breathing until the airway has been secured and lungs ventilation is confirmed. An awake fiberoptic intubation, or other similar techniques, may be necessary to secure the airway. It is recommended to ensure the availability of proper sizes laryngeal mask airway (LMA) at the time of induction of anesthesia in case of difficulty ventilating the lungs.

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