Paradoxical eyelid movement in trisomy 2p.
Paradoxical eyelid movement was reported in a 12-year-old female with 46,XX,dup(2)(p25.3p22.2). Alternating seesaw-like movement of the eyelids during lateral gazing had been observed at 5 months of age when she was first referred to our neuropediatric outpatient department, and the abnormal lid movement persisted without any change for 11 years. The differentiation of the features of the paradoxical lid movements in our patient from those of Duane syndrome were discussed, and a possible pathogenesis is discussed as well. Besides ophthalmologic abnormalities, the patient demonstrated severe psychomotor retardation, marked growth failure, symptomatic generalized epilepsy, and multiple anomalies. The dysmorphism consisted of a cleft lip, a narrow high-arched palate, malalignment, lowset ears, and kyphoscoliosis caused by fused thoracic vertebrae.
Ishikawa
Tatsuya
T
Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.
Inukai
Kazuhisa
K
Kanayama
Manabu
M
D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003937:Diagnosis, Differential; D004370:Duane Retraction Syndrome / Q000175:diagnosis; D005141:Eyelid Diseases / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009069:Movement Disorders / Q000235:genetics* / Q000503:physiopathology*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*