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