Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content + At a Glance Download Section PDF Listen ++ Genetic syndrome with multiple epiphyseal dysplasia, microcephaly, nystagmus, retinitis pigmentosa, and growth retardation. + Synonyms Download Section PDF Listen ++ Epiphyseal Dysplasia, Microcephaly, and Nystagmus; Epiphyseal Dysplasia-Short Stature-Microcephaly-Nystagmus Syndrome; Short Stature-Microcephaly-Mental Retardation-Multiple Epiphyseal Dysplasia Syndrome. + Incidence Download Section PDF Listen ++ Incidence remains uncommon; only a few cases have been reported in the literature. + Genetic Inheritance Download Section PDF Listen ++ Autosomal recessive. + Pathophysiology Download Section PDF Listen ++ Radiographic changes are consistent with multiple epiphyseal dysplasia. The changes are mainly irregular and fragmented epiphyses in the long bones, especially the femoral heads. + Diagnosis Download Section PDF Listen ++ Radiologic evidence of microcephaly without thickening of the skull vault. Delayed ossification of all long bone epiphyses. + Clinical Aspects Download Section PDF Listen ++ Neonates and infants are small for gestational age, short stature, epiphyses small and irregular, square iliac bones, flattened acetabula, microcephaly, nystagmus, mild mental retardation. + Precautions before Anesthesia Download Section PDF Listen ++ 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. + Anesthetic Considerations Download Section PDF Listen ++ 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. + Pharmacological Implications Download Section PDF Listen ++ No known pharmacological implications to this syndrome. + References Download Section PDF Listen ++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]