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At a glance

Intrauterine growth retardation with subsequent dwarfism, prominent slanting eyes, telecanthus, short upper lip, microcephaly, and mental retardation. Part of the ☞Wolf-Hirschorn Phenotype.

Synonyms

Unusual Facies-Mental-Retardation-Intrauterine Growth Retardation Syndrome; Pitt Syndrome.

History

First described in 1984 by D. M. Danks, D. B. Pitt, and J. G. Rogers, all three Australian physicians.

Incidence

Very rare and isolated cases; fewer than 20 patients reported.

Genetic inheritance

Sporadic partial deletion of the short arm of chromosome 4 including the 4p16.3 region.

Pathophysiology

The molecular defects associated with both the Pitt-Rogers-Danks Syndrome (PRDS) and another multiple congenital malformation syndrome, the Wolf-Hirschhorn Syndrome (WHS), show considerable amount of overlap; both of these conditions result from the deletion in the same region of 4p16.3 and the clinical differences observed between these two syndromes are likely the result of allelic variation in the remaining homologue.

Diagnosis

Intrauterine growth retardation, subsequent dwarfism, and unusual characteristic facies (classical “Greek warrior Helmet”). Chromosomal analysis demonstrates found microdeletions of the 4p16.3 segment. Fetal ultrasonography may diagnosis proportionate dwarfism in utero.

Clinical aspects

Milder phenotype compared with ☞Wolf-Hirschorn Syndrome. Pre-and postnatal growth retardation with proportionate dwarfism, mental retardation (moderate to severe), seizures, characteristic facies (microcephaly with prominent glabella, hypertelorism, large mouth, beaked nose, prominent slanting eyes with short upper lip, hypoplastic maxilla), and ocular abnormalities. Clinically, Pitt-Rogers-Danks patients tend to be less severely affected than WHS patients, with no early mortality reported. Many patients show defects in midline closure, such as cleft lip and palate, iris coloboma, hypospadias, sacral dimple.

Precautions before anesthesia

The patient’s history should be evaluated in relation to epilepsy and the anticonvulsant therapy (type and any resultant complications). Anticonvulsant therapy should be continued up to and including the day of surgery. Assess the patient for any known abnormalities associated with proportionate dwarfism: atlantoaxial instability—via history and clinical examination (progressive weakness, hypotonia, spasticity, hyperreflexia, clonus), difficult airway in view of facial dysmorphism and hypoplastic maxilla, and thoracic dystrophy with consequent cardiorespiratory involvement. Investigations: Full blood count, electrolytes, chest radiograph, arterial blood gas, or pulmonary function test, if appropriate.

Anesthetic considerations

No previous anesthetic reports in these patients. Facial dysmorphic features may render airway management challenging. Consider maintaining spontaneous ventilation until the trachea has been intubated using advanced alternative techniques. Predicted tracheal tube sizes may not be suitable. Patients with severe mental retardation may not be cooperative. Triggers known to exacerbate seizures perioperatively should be avoided (hypocapnia, electrolyte derangement, etc). Regional anesthesia (spinal and epidural) has been used successfully in dwarfs; however, because of the potential for development of neurologic problems as a result ...

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