A baby is born with fused eyes, single nasal chamber and undeveloped callosum. What is diagnosis?
a. Holoprosencephaly(Ref: Nelson 20/e p 901)HoloprosencephalyAn abnormality of brain development in which the brain does not properly divide into the right and left hemispheres.3 main types (from most to least severe): Alobar, semi-lobar & lobarSeverity of facial defects corresponds to severity of brain defect.Other signs and symptoms often include intellectual disability, seizures, pituitary dysfunction, short statureAssociated with trisomy 13 (MC), trisomy 18, CHARGE syndrome, Smith-Lemli-Opitz syndrome, Rubinstein-Taybi syndromeIn alobar holoprosencephaly, there is loss of midline structures of the brain and face as well as fusion of lateral & 3rd ventricles of the brain. Facial findings may include a single eye (cyclopia) or very closely spaced eyes (ethmocephaly) or absent eyes (anophthalmia), or very small eye (microphthalmia) with a tubular-shaped nose (proboscis)
Holoprosencephaly
Schizencephaly
Plagiocephaly
Brachycephaly
Central Nervous System