A syndrome characterized by severe hypotrophy with
prenatal onset and a distinctive facial dysmorphism resembling a “Greek
warrior's helmet.” Cardiac malformation is observed in half the cases.
Mental retardation is usually severe.
Deletion 4p; Monosomy 4p.
Caused by partial deletion of the short arm of
1 chromosome 4.
The critical zone for development of this disorder
is located distal to the Huntington disease-linked G8 (D4S10) marker.
Clinically evocated by severe growth retardation and
mental defect, microcephaly, “Greek helmet” facies, and closure defects.
Cytogenetic demonstration of loss of the terminal segment of 4p (4p16.3).
Radiological evidence of delayed bone age.
Clinical features include severe growth and mental
retardation, corpus callosum agenesis, microcephaly, scalp defect, “Greek
helmet” facies, severe ocular hypertelorism, prominent glabella, beaked
nose, short philtrum, micrognathia, carp-shaped mouth, cleft lip, cleft
palate, low-set simple ears, iris coloboma, hypertelorism, downward-slanting
palpebral fissures, ventricular septal defect, renal hypoplasia,
hypospadias, pulmonary isomerism, hemangioma-capillary, diaphragmatic
hernia, sacral dimple, abnormal dermal ridges, common intestinal mesentery,
long limbs, and long rib cage. Other clinical features may include absent pubic
rami, congenital hip dislocation and scoliosis.
Evaluate the airway carefully because
of facial abnormalities, including micrognathia (clinical, radiographs,
fiberoptic if necessary), cardiac function in cases of cardiopathy
(clinical, chest radiographs, ECG, echocardiography), and pulmonary function
(clinical, chest, radiographs, pulmonary function test, arterial blood gas
Difficult direct laryngoscopy and tracheal
intubation may require adequate anesthetic management. Careful intraoperative positioning
because of scoliosis. Although, one case report about a child presenting with
Wolf-Hirschhorn syndrome developed malignant hyperthermia, there is no evidence to suggest
that there is an increased risk of this complication with this medical condition.
Perioperative fluid regimen and
anesthetic drug choice should be adapted to the cardiac and renal functions. Muscle relaxant
is best used after airway is secured. Antibiotic prophylaxis in cases of
Pitt-Rogers-Danks Syndrome: Prominent
eyes, mental retardation, unusual facies, and intrauterine growth
retardation, probably involves the deletion of multiple loci on 4p16.3;
known as a milder form of the Wolf-Hirschhorn syndrome.
Cat Cry Syndrome: A rare chromosomal
disorder that involves a partial deletion of the small arm (p) of chromosome
5. It is clinically similar to the Wolf-Hirschhorn syndrome, especially with
the severe ocular hypertelorism, but with one specific additional
distinctive high, shrill, mewing, “kitten-like” cry during infancy. This
cry becomes less pronounced during late infancy. Other features include
failure to thrive, microcephaly, micrognathia, and mental retardation.
Iacobucci T, Nanni L, Picoco F, de Francisci G: Anesthesia for a child with Wolf-Hirschhorn
syndrome. Paediatr Anaesth
Mohiuddin S, Mayhew JF: Anesthesia for children with Wolf-Hirschhorn syndrome: a report and
literature review. Paediatr Anaesth
Sammartino M, Crea MA, Sbarra GM, et al: Absence of malignant
hyperthermia in an infant with ...