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Genetic syndrome with multiple epiphyseal dysplasia, microcephaly, nystagmus, retinitis pigmentosa, and growth retardation.

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

Incidence remains uncommon; only a few cases have been reported in the literature.

Autosomal recessive.

Radiographic changes are consistent with multiple epiphyseal dysplasia. The changes are mainly irregular and fragmented epiphyses in the long bones, especially the femoral heads.

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

Neonates and infants are small for gestational age, short stature, epiphyses small and irregular, square iliac bones, flattened acetabula, microcephaly, nystagmus, mild mental retardation.

In the presence of microcephaly, the facial features must be reviewed in case of anomalies that may lead to difficult airway management. The extent of mental retardation must be assessed to determine the impact on the patient's behavior during induction of anesthesia.

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. No anesthetic considerations specific to this medical condition.

No known pharmacological implications to this syndrome.

Nevin NC, Thomas PS, Hutchinson J: Syndrome of short stature, microcephaly, mental retardation and multiple epiphyseal dysplasia—Lowry-Wood syndrome. Am J Med Genet 24:33, 1986.  [PubMed: 3706411]
Yamamoto T, Tohyama J, Koeda T, et al: Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: A variant of Lowry-Wood syndrome? Am J Med Genet 56:6, 1995.  [PubMed: 7747786]

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