Manifestations and Physical Findings
Of those fetuses that do survive to gestation and subsequent birth, common abnormalities may include:
- Nervous system
- Mental retardation and motor disorder
- Microcephaly
- Holoprosencephaly (failure of the forebrain to divide properly).
- Structural eye defects, including microphthalmia, Peters anomaly (a type of eye abnormality), cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia
- Meningomyelocele (a spinal defect)
- Musculoskeletal and cutaneous
- Polydactyly (extra digits)
- Low-set ears
- Prominent heel
- Deformed feet known as rocker-bottom feet
- Omphalocele (abdominal defect)
- Abnormal palm pattern
- Overlapping of fingers over thumb
- Cutis aplasia (missing portion of the skin/hair)
- Cleft palate
- Urogenital
- Abnormal genitalia
- Kidney defects
- Other
- Heart defects (ventricular septal defect)
- Single umbilical artery
Read more about this topic: Patau Syndrome
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