Pitt-Rogers-Danks Syndrome

Intrauterine growth retardation with subsequent dwarfism, prominent slanting eyes, telecanthus, short upper lip, microcephaly, and mental retardation

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

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

Very rare; fewer than 20 patients.

Initially thought to be autosomal recessive transmission but recent studies question this mode of inheritance. Deletion of the short arm of chromosome 4(4P-) and duplication of the long arm of chromosome II are reported in some cases.

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.

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.

Preand 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.

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: cell blood count, electrolytes, chest radiograph, arterial blood gas, or pulmonary function test, if appropriate.

No previous anesthetic reports in these patients. 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 of spinal stenosis and vertebral misalignment, as well as the need for patient cooperation, a central neuraxial block is usually reserved for those patients for whom the benefits of the technique far outweigh those of the risks of general anesthesia. For patients with thoracic dystrophy, positive-pressure ventilation should be carefully instituted to prevent barotrauma. One important note is that there are two case reports of malignant hyperthermia in patients with WHS, another 4p-deletion syndrome. Because of the genetic and clinical similarities between the two syndromes, close ...