| Physical examination | Diagnostic considerations based on findings |
| Head circumference | - Macrocephaly - Hydrocephalus or hemimegalencephaly
- Microcephaly - Congenital CNS infections (especially TORCH infections, Zika virus) or congenital CNS lesions
|
| Skin examination | - Vesicular lesions - Consider HSV infection
- Vesicular lesions in a dermatomal pattern - Incontinentia pigmenti
- Port wine stain of the forehead/eyelid - Consider Sturge-Weber syndrome and evaluate for glaucoma
- Nevus or discoloration in a dermatomal or whorled pattern - Developmental cerebral dysgenesis
- "Blueberry muffin" skin appearance - Congenital Rubella infection (or other TORCH infections)
- Ash leaf macule - Tuberous sclerosis
- Cutis aplasia (lack of hair and skin in a localized area) - Associated developmental cerebral dysgenesis
|
| Ophthalmological examination | - Hypoplastic optic nerves - Cerebral dysgenesis (eg, septo-optic dysplasia)
- Chorioretinitis - Congenital CNS infections
- Abnormal retinal pigmentation - Neuronal ceroid lipofuscinosis
- Coloboma - Agenesis of the corpus callosum
- Congenital cataract - Congenital CNS infections (especially TORCH infections) or metabolic (storage) diseases
|
| Facial (or other) dysmorphism | - Hypotelorism, cleft lip/palate (mid-face abnormalities) - Cerebral dysgenesis (eg, holoprosencephaly)
- Multiple congenital anomalies - Chromosomal abnormalities (trisomy syndromes, partial deletions/duplications)
|
| Mental status | - Irritable, jittery - Neonatal encephalopathy (eg, due to HIE, neonatal abstinence syndrome)
- Lethargy, decreased responsiveness - Neonatal encephalopathy (eg, due to HIE); severe systemic illness and/or infection (eg, meningoencephalitis)
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