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At a glance

An inherited disease with facial deformations, severe mental retardation, and acral limb deficiencies.

Synonym

Growth Retardation, Mental Retardation, Phalangeal Hypoplasia Syndrome.

Incidence

Extremely rare.

Genetic inheritance

Autosomal recessive.

Diagnosis

Based on the clinical findings.

Clinical aspects

Intrauterine growth retardation and postnatal growth failure result in short stature. The disorder is further characterized by facial dysmorphism (partial mandibular absence, narrow forehead, low hairline), malformations of the limbs (small feet and hands, terminal hypoplasia of the toes and fingers, small or absent finger- and toenails), and neurologic anomalies (severe mental retardation, seizures, generalized hypotonia).

Precautions before anesthesia

Assess for signs of difficult airway management. Obtain a history of seizures, review the treatment and its efficiency and optimize it if necessary. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Anesthesia in this disorder has not been described. The features of the syndrome suggest that mask ventilation and direct laryngoscopy may be difficult, thus maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. Careful intraoperative handling and positioning is advised due to generalized hypotonia to avoid joint dislocations.

Pharmacological implications

Avoid epileptogenic drugs (eg, meperidine/pethidine) or drugs that decrease the seizure threshold in patients with seizures. Chronic anti-seizure treatment may interfere with the metabolism and elimination of other drugs that share the same metabolic pathways.

Reference

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Cartwright  J, Nelson  M, Fryns  JP: Pre and postnatal growth retardation—severe mental retardation-acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism? Genet Couns 2:147–150, 1991.  [PubMed: 1801850]

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