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
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
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
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 ...