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At a glance

It is a genetic disorder characterized by multiple epiphyseal dysplasia, microcephaly, congenital nystagmus, short stature, retinitis pigmentosa (tapetoretinal degeneration), and growth retardation. Affected individuals show variable degree of mental retardation.

Synonyms

Epiphyseal Dysplasia, Microcephaly, and Nystagmus; Epiphyseal Dysplasia-Short Stature-Microcephaly-Nystagmus Syndrome; Short Stature-Microcephaly-Mental Retardation-Multiple Epiphyseal Dysplasia Syndrome.

History

This medical condition was first described by Dr Robert B. Lowry (b 1932), a British Medical Geneticist—Professor and head of the division of medical genetics in the department of pediatrics, University of Calgary, Alberta, and Dr BJ Wood, an American Geneticist.

Incidence

As a collective of syndromes with multiple epiphyseal dysplasia, the incidence is estimated at 1 in 20,000 people in the general population. The exact incidence for the Lowry Wood Syndrome remains unknown. Although there are only few cases reported in the literature, it is suspected simply underdiagnosed. It affects males and females in equal numbers. It accounts for approximately 25% of all cases of multiple epiphyseal dysplasia.

Genetic inheritance

It is believed to be inherited as autosomal recessive trait.

Pathophysiology

Radiographic changes are consistent with multiple epiphyseal dysplasia (abnormal growth of the long tubular bones). The changes are mainly irregular and fragmented epiphyses in the long bones, especially the femoral heads.

Diagnosis

Radiologic evidence of microcephaly without thickening of the skull vault. Delayed ossification of all long bone epiphyses.

Clinical aspects

Neonates and infants are small for gestational age, short stature, small and irregular epiphyses, square iliac bones flattened acetabula, microcephaly, nystagmus, and abnormal neurological development. Approximately 50% of affected infants have skeletal malformations present at birth that include clubfoot, clinodactyly, or cleft palate.

Precautions before anesthesia

In the presence of microcephaly, craniofacial features must be reviewed in case of anomalies that may cause an unexpected difficult airway management. The extent of mental retardation must be assessed to determine the impact on the patient’s behavior during induction of anesthesia. The use of preoperative sedation, when underlying medical condition does not prevent it (eg, airway problems), should be considered to facilitate induction of anesthesia.

Anesthetic considerations

In the presence of mental retardation and lack of communication, use of a sedative premedication might be appropriate to reduce patient’s stress during induction of anesthesia. Patient’s positioning for surgery must be carefully done to limit the risk of pressure point, pathological fractures, and contracture postoperatively. There are no anesthetic considerations specific to this medical condition other than any underlying associated medical conditions.

Pharmacological implications

There are no known pharmacological implications to this syndrome.

Other conditions to be considered

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