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It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome [1] and in Williams syndrome.The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, [2] whereas Marfan syndrome can cause a downslant. [3]
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Down Syndrome Symptoms Down syndrome is usually diagnosed during pregnancy through genetic screening or at birth through diagnostic tests. There are some distinct physical features that typically ...
Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides. Hence, they are much more likely to be observed in children with lightly pigmented eyes. Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of Asian ...
Parinaud's syndrome is a cluster of abnormalities of eye movement and pupil dysfunction, characterized by: Paralysis of upwards gaze: Downward gaze is usually preserved. This vertical palsy is supranuclear, so doll's head maneuver should elevate the eyes, but eventually all upward gaze mechanisms fail. In the extreme form, conjugate down gaze ...
Clinically, if the point at which the helix (curved upper part) of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes (the bicanthal plane), the ears are considered low set. [2] [1] Low-set ears can be associated with conditions such as: Down syndrome [3] Turner syndrome; Noonan syndrome [4] Patau ...
Diabetes, for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.
It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, [3] receding mandible and intellectual disability. A mouse model has been developed. [4] This mouse model is characterized by a severe deficiency of ATR ...