Pena-Shokeir Syndrome Type II

Rapidly progressive neurological disorder leading to brain atrophy with intracerebral calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.

Cerebro-Oculo-Facio-Skeletal Syndrome; COFS Syndrome.

First described by S.D.J. Pena and W.K.H. Shokeir in 1974.

Very rare. The original reports are mainly from the Manitoba aboriginal population in Canada.

Autosomal recessive.

Pena-Shokeir Syndrome type II is caused by mutations in complementation genes 2 and 6. Death usually occurs by the age of 5 years but patients with milder forms may survive beyond childhood. Genes are located on 19q13.2-q13.3, 13q33, and 10q11.

Clinically evocated by association of arthrogryposis, ocular signs, and growth failure. Many features are apparent at birth. The disease involves head and neck (microcephaly, micrognathia/retrognathia, upper lip overlaps the lower lip, sloping forehead, long philtrum and prominent nasal root, large ear pinnae), CNS (mental retardation, hemiparesis, hypoplasia of the optic tract, focal microgyria, corpus callosum agenesis, seizures, infantile spasm, hypotonia, third ventricle subependymal focal gliosis, cerebellar hypoplasia), eyes (cataracts, blepharophimosis, microphthalmia, deep-set eyes, and nystagmus), skeleton (osteoporosis, vertebral segmentation defects, kyphoscoliosis, coxa valga, shallow acetabular angle, elbow and knee flexion contractures, camptodactyly, vertical talus, rocker-bottom feet, longitudinal groove on the soles, posterior placement of the second metatarsal). Other inconstant features can include widely spaced nipples, insulin resistance, hirsutism, and heart defects. Early death, associated with feeding difficulties and pneumonia, often occurs.

Active respiratory tract infections should be sought and treated. Evaluate tracheal intubation (clinical, radiographs, fiberoptic) because of facial malformations and evaluate neurological function (clinical, EEG, CT/MRI).

Anesthesia care has not been described in the literature. The features of the disease suggest that tracheal intubation may be difficult. Patient positioning and intravascular access may be difficult because of contractures. Patients are prone to seizures.

Chronic use of anticonvulsants may alter the metabolism of some anesthetic agents.

Neu-Laxova Syndrome: An autosomal recessive condition characterized by multiple abnormalities at birth such as microcephaly and abnormal limbs, skin, external genitals, and placenta.

Potter Syndrome: Characterized by an excess of skin dehydrated looking, a flattened face with a “parrot-beak" nose, eyelid anomalies, micrognathism, and low-set ears. A kidney may be absent or underdeveloped. Skeletal abnormalities include clubfeet and contracted joints occur frequently in infants.

Seckel Syndrome: Characterized by low birth weight, microcephaly, mental retardation, large eyes, a beak-like nose, a narrow face, and micrognathia. Other features include an underdeveloped thumb, femoral dislocation, clubfoot, scoliosis, and GI abnormalities. It is transmitted as an autosomal recessive genetic disorder.

Cockayne Syndrome: A rare form of dwarfism, characterized by the presence of three signs (1) dwarfism, (2) photosensitivity, and (3) progeria. Other features include deafness, microcephaly, ataxia, eyes malformations, retinal atrophy, atherosclerosis, and renal insufficiency.