Skip to Main Content

++

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]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.