A rare chromosomal disorder in which all or a portion
of the short arm (p) appears three times rather than twice in cells of the
body. Clinically characterized by breathing difficulties, craniofacial
anomalies, hands and feet abnormalities, and congenital heart defects. Other clinical
features include genital anomalies in affected males, skeletal defects, and
severe mental retardation.
Chromosome 4, Partial Trisomy; Duplication 4p Syndrome.
Duplication of the short arm of the fourth
chromosome (dup(4)) leading to the appearance of three p arm (trisomy).
Head and neck: microcephaly, square face and flat forehead,
prominent supraorbital ridges, short neck. Ears: enlarged ears, thickened helix
and antihelix. Eyes: uveal coloboma, microphthalmia, down-slanting palpebral
fissures. Mouth and nose: cleft lip and palate, macroglossia, pointed mandible. Cardiac defects: congenital
heart defects are often associated. Respiratory system: absent or additional ribs, recurrent
pulmonary aspiration leading to severe respiratory problems, broad chest
with aging. Central nervous system: mental retardation, agenesis of the corpus callosum, severe
seizures. Neuromuscular: present with hypertonic responses in the infancy period but
becoming severely hypotonic later. Other clinical features: clinodactyly of the fifth finger,
camptodactyly, hypoplastic nails, preaxial polydactyly, congenital
dislocated hips, syndactyly of the second and third toe, joint contractures,
vertebral anomalies such as spinal hemivertebrae, hypospadias, micropenis,
cryptorchidism, and obesity accompanied with redundant skin.
Evaluate cardiac function (clinical,
echocardiography, ECG) and assess respiratory function (because of recurrent
In presence of severe mental
retardation, behavioral problems might affect considerably the preoperative
period and anesthesia induction: premedication might be indicated but the
potential for a breathing problem may be a limitation. Careful
intraoperative positioning should be done (vertebral anomalies, joint
contractures and stiffness). Direct laryngoscopy and tracheal intubation can
be difficult because of short neck and the presence of micrognathia and
macroglossia. It is recommended to maintain spontaneous respiration until tracheal
intubation is achieved and lung ventilation confirmed. A laryngeal mask airway must be
available. Venous access can be difficult because of the presence of puffy hands (redundant
skin). Perimedullar anesthesia is often contraindicated or difficult because of vertebral
and spine anomalies.
Consider anesthetic drugs
interactions with antiepileptic medications. The use of an intravenous
antiepileptic relay must be considered intraoperatively. The chronic use of
antiepileptic medications might affect the metabolism of the anesthetic
agents. Prophylactic antibiotics should be as indicated in cases of cardiac
defect. Preserve spontaneous ventilation before intubation is performed.
Avoid anesthetic drugs with marked cardiovascular effects.
Patel SV, Dagnew H, Parekh AJ, et al: Clinical manifestations of trisomy
4p syndrome. Eur J Pediatr