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Table 1 Specialist examination of two patients

From: Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene

Patients

IV10

IV11

Weight (Kg)

3.8 DS (at 3 years)

3 DS (at 1 year)

Height (cm)

2DS (at 3 years)

9 DS (at 1 year)

Cataract

bilateral

bilateral

Age of cataract

6 months

1 year

Microcephaly

3.5 DS

3DS

Mental retardation

moderate

moderate

Psychomotor development

Spoke at 2 years

Speech with monosyllabic words

 
 

Sit with support since 5 months

Walk with assistance gained

Magnetic resonance image

Anomaly of Dandy-walker

Thinning of corpus callosum

 

Others

Polymalformatif syndrome: Microphthalmia, strabismus (isotropia), nystagmus

Axial hypotonia

Intrauterine growth retardation

 
 

Bilateral cryptorchidism operated

Umbilical hernia