| Main clinical features
|
very low birth weight likely due to insulin deficiency in the last trimester of pregnancy
pancreatic agenesis, and semilobar holoprosencephaly with mental retardation
brain MRI showing absence of the anterior interhemispheric fissure (red arrow), fusion of the frontal lobes (orange arrow), absence of frontal horns
facial characteristics include hypotelorism, epicanthal folds, depressed nasal bridge, and long philtrum
in any cases, absence of pancreatic anomalies (PMID: 31006510)) |