Abnormality
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- Brain/CNS
- Ventriculomegaly (48.5%) [4]
- Agenesis of the Corpus Callosum [1]
- Holoprosencephaly [1]
- Partial absence of Septum Pellucidum, Hydrocephalus (9%) [15]
- Gyral Abnormalities, Posterior Fossa Anomalies. [4]
- Megalencephaly [16]
- Thickened Nuchal Fold [17]
- Thickened Nuchal Translucency [2]
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- Craniofacial
- Choanal Stenosis (14%) [4]
- Cleft Soft Palate [4]
- Ectopia Lentis [21]
- Frontal Bossing, Depressed Nasal Bridge [10]
- Proptosis [2]
- Low set ears [22]
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- Cardiac
- Cardiovascular Abnormalities [18]
- Hypoplastic Left Heart [2]
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- Genitourinary (10%)
- Hydronephrosis [2]
- Polycystic Kidney [4]
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- Gastrointestinal (1.5%) [14]
- Diaphragmatic Hernia [2]
- Pyloric Stenosis, Esophageal Atresia [18]
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- Skeletal
- Reduced Foot Length with Abnormal Toes [4]
- Broad First Toe [2]
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