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At a glance

It is a syndrome characterized by unilateral or bilateral microphthalmos and blepharoptosis. The ophthalmological signs include coloboma, microcornea, and congenital glaucoma. Less frequently, affected infants present anophthalmia, severe mental retardation, microcephaly, and malformations of the teeth, ears, and digits. Other features include developmental delay, intellectual retardation, microcephaly, and urogenital malformations.

Synonyms

Lenz Dysplasia; Lenz Syndrome II; Lenz Dysmorphogenic Syndrome; Lenz Syndrome; Microphthalmia with Associated Anomalies (MAA).

History

It is named in 1955 after Widukind Lenz (1919-1995), a distinguished German pediatrician, geneticist, and dysmorphologist who was among the first to recognize the Thalidomide Syndrome in 1961 and alert the world to the dangers of limb and other malformations due to the mother’s exposure to this drug during pregnancy.

Incidence

The exact incidence remains unknown. Approximately 12 affected males with the fully expressed disorder have been reported in the literature.

Genetic inheritance

Genetic inheritance is controversial. It is present in males only as it is in most cases inherited as X-linked (gene map locus is Xq27-Xq28). However, an autosomal inheritance cannot be excluded in some cases and females with heterozygotes expression may exhibit microcephaly, short stature, and/or malformations of the fingers or toes. A molecular genetic testing has been developed and allows to measure the BCOR (MCOPS2 locus) believed responsible for the disease. One additional locus on the X chromosome (MCOPS1) is known to be associated with Lenz Microphthalmia Syndrome (LMS).

Pathophysiology

Pathophysiologic background has not been determined.

Diagnosis

It is based on the clinical features.

Clinical aspects

Microcephaly with mental retardation, and various anomalies of external ear, digits (double thumbs), heart, skeleton, and urogenital system. Features of the syndrome include severe ophthalmic abnormalities possibly including microphthalmia (even anophthalmos), absent pupil, microcornea, and a variety of craniofacial anomalies such as microcephaly, auricular malformations, and dental abnormalities. Other features include skeletal anomalies with underdeveloped shoulders, webbed neck, cardiac malformations (bicuspid aortic valve), hypospadias, and other severe urogenital anomalies. Most patients are mentally retarded with dilatation of the lateral ventricles (hydrocephalus) and dysgenesis of the corpus callosum.

Precautions before anesthesia

Because of the versatility in the expression of the syndrome, each patient must be evaluated individually. Thorough history and examination are necessary to determine the extent of the syndrome. Particular note should be made of the following:

  • Central nervous system involvement including epilepsy, mental retardation, and possible blindness

  • Respiratory system involvement as a result of restrictive skeletal abnormalities

  • Urogenital involvement, possibly to the point of renal impairment

  • Craniofacial abnormalities that may cause airway difficulties

  • Cardiac evaluation (echocardiography, electroencephalography) to eliminate associated defects

Anesthetic considerations

The potential association with ...

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