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At a glance

Congenital acrofacial dysostosis obvious at birth. Characterized by an absent or incompletely developed tongue (hypoglossia), absent or partially missing fingers and/or toes (ectrodactylia), micrognathia, and malformation of arms and/or legs (peromelia). Difficult airway management at the time of anesthesia must be expected due to severe micrognathia.

Synonyms

Aglossia-Adactyly Syndrome; Akroteriasis Congenita; Hanhart’s Syndrome; Mandibular Dysostosis and Peromelia Syndrome; Oroacral Syndrome; Oromandibular Limb Hypoplasia Syndrome; Oromandibular-limb Hypogenesis Syndrome; Peromelia with Micrognathism.

Hypoglossia-Hypodactyly Syndrome: Marked mandibular hypoplasia in a 14-year-old boy with Hypoglossia-Hypodactyly Syndrome.

Incidence

Rare (“natural” incidence: 1:175,000 live births).

Genetic inheritance

Most cases are sporadic, but autosomal dominant inheritance has been reported.

Pathophysiology

Not known. Vascular disruptions at approximately the fourth embryonic week, with possible drug influence, have been hypothesized. In vivo and pathologic studies and animal models support this theory. Whether a preceding blastogenetic alteration or a disorganization mutation is an influencing factor remains unclear.

Diagnosis

Diagnosis is based only on clinical findings.

Clinical aspects

The syndrome is characterized by a small mandible, hypoglossia or aglossia, and hypodactylia. Mental retardation is reported in 10 to 15% of patients.

Precautions before anesthesia

An anesthesiology consultation is highly recommended before elective surgery. Tube feeding may be necessary in the neonatal period. Management of the airway may be difficult because of the anatomical particularities; evaluate for potential difficult tracheal intubation. Physical examination directed primarily toward the central nervous system, cardiovascular system (cor pulmonale), lungs, and upper airway (tracheomalacia). Standard preoperative laboratory examinations are appropriate in most patients (blood chemistries, blood group, hemoglobin, coagulation).

Anesthetic considerations

Anesthetic management depends on the severity of the malformations and, thus, on the surgical procedure. Special attention must be given to the airway and its potential for a very difficult tracheal intubation. All proper equipment to assist with difficult direct laryngoscopy must be available, including a proper sized laryngeal mask airway (LMA). Maintain spontaneous ventilation until the trachea is secured and lung ventilation confirmed.

Pharmacological implications

No known implications with this condition.

Other conditions to be considered

  • Johnson Hall Krous Syndrome (Glossopalatine Ankylosis Cataracts Digital Syndrome): Similar condition presenting with digital anomalies and cataracts.

  • Goldenhar Syndrome: Common birth defect of vascular origin involving first and second branchial arch derivatives resulting mainly with hemifacial microsomia with absent ear and eye and vertebral anomalies. Usually associated with cardiovascular anomalies, including ventriculoseptal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot, and coarctation of the aorta. Arnold-Chiari Syndrome and hydrocephalus are reported. Severe-to-major ...

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