Feature | Details |
Microcephaly | - Defined as occipitofrontal circumference <3rd percentile
- Both proportionate and disproportionate microcephaly can occur
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Other cranial dysmorphisms | - Craniofacial disproportion
- Overriding cranial sutures
- Craniosynostosis
- Cutis gyrata (redundant scalp)
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Ocular abnormalities | - Macular abnormalities (eg, focal pigmentary retinal mottling and chorioretinal atrophy)
- Optic nerve abnormalities (eg, optic nerve hypoplasia, increased cup-to-disk ratio, and pallor)
- Retinal vascular abnormalities (eg, tortuosity, straightening, attenuation, abnormal termination, and focal areas of dilation)
- Structural abnormalities (eg, microcornea, microphthalmia, iris colobomas, intraocular calcification, lens subluxation, cataracts)
- Congenital glaucoma
- Strabismus
- Nystagmus
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Hearing loss | - Sensorineural hearing loss
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Arthrogryposis | - Congenital contractures (arthrogryposis)
- Unilateral or bilateral club foot
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Neuromotor abnormalities | - Hypertonia/spasticity
- Hyperreflexia
- Irritability
- Dysphagia and feeding difficulties
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Seizures | |
Small size for gestational age | - Defined as birth weight <10th percentile for gestational age
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Neuroimaging abnormalities | - Intracranial calcifications (most commonly at the junction between the cortical and subcortical white matter)
- Ventriculomegaly
- Cortical atrophy
- Reduced brain volume
- Delayed myelination
- Simplified gyral patterns (eg, polymicrogyria, pachygyria, lissencephaly)
- Thinning of hypoplasia of the corpus callosum
- Hypoplasia of the brainstem and cerebellum
- Enlargement of the cisterna magna
- Increased extra-axial fluid spaces
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