Congenital Abnormalities

Question 1

Ancephaly

Answer 1

• large portion of scalp, skull and cerebral hemispheres do not develop, usually detected antenatally, always fatal
• defect in closure of neural tube
• maternal pre-conception folic acid supplementation prevents 70% of neural tube defects

Question 2

Encephalocele

Answer 2

• neural tube defect
• protrusion of brain meninges through midline defect in skull
• usually associated with craniofacial abnormalities and or cerebral abnormalities

Question 3

Microcephaly

Answer 3

• small head due to incomplete brain development or arrest of brain growth
• present at birth, or can develop over first few years of life
• multiple causes- usually genetic aetiology, also TORCH infections, maternal substance abuse and perinatal hypoxia
• OFC (occipito-frontal circumference) crossing centiles, shallow sloping forehead, developmental delay, seizures and short stature

Question 4

Disorders of neuronal migration

Answer 4

• spectrum from minor, clinically non-significant abnormalities to devastating brain malformations e.g lissencephaly, holoprosencephaly, shizencephaly, porencephaly
• may result in learning difficulties, developmental delay, and seizures depending on severity of malformation. Some result in intrauterine death

Question 5

Structural congenital abnormalities

ENT causes

Answer 5

• cleft lip and palate
• preauricular pits
• pre-auricular tags