Lymphedema-distichiasis syndrome

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


合計: 1

                       


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PMID (PMCID)
21481749
 MALE Infant
Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia.
McAbee GN, Santilli AM, Stone J, Schnur RE.
Pediatr Neurol. 2011;44(5):381-4.
An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (lymphedema-distichiasis syndrome), genitourinary anomalies, and skeletal dysplasia.