A 3.26-kg neonate with a gestational age of 40 weeks presented with episodic hypothermia and seizures, but stable vital signs. Semilobar holoprosencephaly was seen on magnetic resonance imaging. Ocular examination revealed bilateral persistent fetal vasculature. As genetic testing was not
We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a
We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and
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