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| trisomy_13 [2025/09/29 15:01] – Scott Larson | trisomy_13 [2025/09/29 15:05] (current) – Scott Larson | ||
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| a.k.a. Patau syndrome | a.k.a. Patau syndrome | ||
| ====Main Features==== | ====Main Features==== | ||
| - | * | + | * |
| + | * 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==== | ====Eye Findings==== | ||
| - | * Microphthalmia | + | * Microphthalmia/ Anophthalmia |
| * Coloboma of iris | * Coloboma of iris | ||
| * Corneal Opacities | * Corneal Opacities | ||
| * Cataracts- often sectoral associated with coloboma | * Cataracts- often sectoral associated with coloboma | ||
| - | * Retinal dysplasia, Retinal Detachment | + | * Retinal dysplasia, Retinal Detachment. Coats Disease |
| - | * Anopthalmia | + | |
| * Persistent fetal vasculature | * Persistent fetal vasculature | ||
| * Glaucoma | * Glaucoma | ||
| Line 17: | Line 19: | ||
| * Cerebral Vision impairment | * Cerebral Vision impairment | ||
| ====Other Findings==== | ====Other Findings==== | ||
| - | * | + | * Congenital heart disease |
| + | * Polydactyly | ||
| + | * Microcephaly | ||
| + | * GU malformations | ||
| + | * cryptorchidism and renal anomalies | ||
| + | * Ear anomalies | ||
| + | * Omphalocele | ||
| ====Etiology==== | ====Etiology==== | ||
| - | * | + | * Chromosome abnormality |
| ====Resources==== | ====Resources==== | ||
| * [[https:// | * [[https:// | ||
| + | * [[https:// | ||
| {{tag> | {{tag> | ||