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| trisomy_13 [2025/09/29 14:57] – created Scott Larson | trisomy_13 [2025/09/29 15:05] (current) – Scott Larson | ||
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| ====== Trisomy 13 ====== | ====== Trisomy 13 ====== | ||
| a.k.a. Patau syndrome | a.k.a. Patau syndrome | ||
| + | ====Main Features==== | ||
| + | * Severe congenital and neurodevelopmental impairment | ||
| + | * Midline defects | ||
| + | * cleft lip and palate, holoprosencephaly, | ||
| + | * Poor prognosis for life with high infant mortality, most infants die in the first days or weeks of life only 5-10% survive beyond the first year. | ||
| + | ====Eye Findings==== | ||
| + | * Microphthalmia/ | ||
| + | * Coloboma of iris | ||
| + | * Corneal Opacities | ||
| + | * Cataracts- often sectoral associated with coloboma | ||
| + | * Retinal dysplasia, Retinal Detachment. Coats Disease | ||
| + | * Persistent fetal vasculature | ||
| + | * Glaucoma | ||
| + | * Kerato-irido-lenticular dysgenesis | ||
| + | * Optic Nerve Hypoplasia | ||
| + | * Cerebral Vision impairment | ||
| + | ====Other Findings==== | ||
| + | * Congenital heart disease | ||
| + | * Polydactyly | ||
| + | * Microcephaly | ||
| + | * GU malformations | ||
| + | * cryptorchidism and renal anomalies | ||
| + | * Ear anomalies | ||
| + | * Omphalocele | ||
| + | ====Etiology==== | ||
| + | * Chromosome abnormality | ||
| + | ====Resources==== | ||
| + | * [[https:// | ||
| + | * [[https:// | ||
| + | |||
| + | {{tag> | ||