West syndrome

A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

Short thumb

Hypoplasia (congenital reduction in size) of the thumb.


Total: 1

                       


(per page)
PMID (PMCID)
10955479
 FEMALE Infant, Newborn
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.
Plomp AS, Reardon W, Benton S, Taylor D, Larcher VF, Sundrum R, Winter RM.
Clin Dysmorphol. 2000;9(3):189-92.
A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay.