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At a glance

Polymalformative syndrome characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral fissures, blepharophimosis, highly arched palate, preauricular skin tags, micrognathia, and severe psychomotor delay.


Mental Retardation-Microcornea-Microcephaly Syndrome.


This medical condition was first described in 1971 by Robert L. Kaufman, a US physician.


No more than 10 cases have been described to date.

Genetic inheritance

It is an autosomal recessive in heritance trait. Two novel compound heterozygous mutations in UBE3B were recently identified in two sisters by exome sequencing. UBE3B encodes a widely expressed protein ubiquitin ligase E3B that, when mutated in both alleles, causes Kaufman Oculocerebrofacial Syndrome.




Based on described clinical features. Radiologic examination reveals a turricephalic skull, marked craniofacial disproportion, mild kyphoscoliosis, coxa valga, bilateral hypoplasia of the first ray of both hands, mild bilateral hypoplasia of the terminal and intermediate phalanges of the hands and feet and hypoplasia of the mandible.

Clinical aspects

Intrauterine and postnatal growth retardation. The presence of neonatal respiratory distress has been suggested. Lack of specific manifestations in early infancy is reported with a changing phenotype. Congenital hypotonia, mental retardation, and microcephaly are important features. Ophthalmologic features include hypertelorism, telecanthus, epicanthus, eyelid ptosis, blepharophimosis, up-slanting palpebral fissures, nystagmus, exotropia, strabismus, amblyopia, myopia, microcornea, optic atrophy, and sparse and laterally broad eyebrows. Other facial features may include a flat philtrum, micrognathia, poorly formed teeth, high and narrow palate, preauricular tags, and small and low-set ears. Lordosis, flat feet, joint contractures, constipation, large clitoris, edema, and cutis laxa may occasionally be present.

Precautions before anesthesia

Careful assessment of respiratory function and neuromuscular development.

Anesthetic considerations

Expect difficult laryngoscopy because of micrognathia and high, narrow palate. Peripheral vascular access may be difficult secondary to joint contractures and cutis laxa. The presence and severity of the congenital hypotonia dictates the management of intraoperative and postoperative ventilation support and intensive care plan.

Pharmacological implications

Use of succinylcholine in presence of generalized hypotonia is better avoided. No reports associated with malignant hyperthermia exist.

Other conditions to be considered

  • Congenital Rubella Syndrome: Characterized by microcephaly, cataracts, congenital glaucoma, congenital heart disease, deafness, purpura, splenomegaly, jaundice, and mental retardation. It results from a maternal infection in early pregnancy.

  • TORCH Syndrome: An acronym that stands for a fetal infection caused by Toxoplasmosis, Other agents (syphilis, parvovirus, and varicella zoster), Rubella (German measles), Cytomegalovirus, and Herpes simplex that is seen at ...

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