Case presentation: Newborn was born on 07/25/22 in UFTM clinics hospital, premature at 36 weeks and 5 days, iterative cesarean section, APGAR ⅞, aspiration of 11 ml meconium fluid gastric lavage were performed without complications. He presented hypotonia central cyanosis the 1st minute, requiring oxygen therapy first 20 minutes life. At birth, head circumference lower than expected (30.5cm - 4...

holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptu...

Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.