Wolf-Hirschhorn Syndrome

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 analysis).

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 cardiopathy.

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.