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Polymalformative syndrome of unknown origin characterized by particular facial features and mental retardation.

Mental Retardation-Microcornea-Microcephaly Syndrome.

No more than 10 cases have been described to date. Autosomal recessive.


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

Intrauterine and postnatal growth retardation. Neonatal respiratory distress. Lack of specific manifestations in early infancy, together with a changing phenotype. Congenital hypotonia, mental retardation, and microcephaly. 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.

Careful assessment of respiratory function and neuromuscular development.

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.

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

Congenital Rubella Syndrome: Microcephaly, cataracts/congenital glaucoma, congenital heart disease, deafness, purpura, splenomegaly, jaundice, and mental retardation; a result of maternal infection in early pregnancy (TORCH-syndrome).

Lowe Syndrome: Congenital disorder characterized by cataracts, infantile glaucoma, renal dysfunction and intellectual impairment.

De Toni Debré Fanconi Syndrome: An inherited condition involving a generalized transport defect in the proximal tubules resulting in renal losses of glucose, calcium, phosphate, uric acid, amino acids, and bicarbonate leading to renal failure, osteomalacia, and short stature.

Briscioli V, Manoukian S, Selicorni A, et al: Kaufman oculocerebrofacial syndrome in a girl of 15 years. Am J Med Genet 58:213, 1995.
Kaufman R, Rimoin DL, Prensky AL, et al: An oculocerebrofacial syndrome. Birth Defects Orig Artic Ser 7:135, 1971.  [PubMed: 5006210]

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