pancreatic hypoplasia

(1) Cystic fibrosis, see there.
2) A nonspecific term for underdevelopment of pancreatic tissue.

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References in periodicals archive ?

In mice models, PTF1A inactivation reverted pancreatic cells to intestinal cells, suggesting its function as a switch between pancreatic and intestinal cell fates (24) and PTF1A dose reduction resulted in pancreatic hypoplasia and insufficient insulin secretion in a dosage dependent manner (22).

Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice.

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

Besides, polysplenia syndrome concomitant with situs inversus totalis and distal pancreatic hypoplasia are rare congenital anomalies.

Keywords: Polysplenia syndrome, situs inversus totalis, pancreas, pancreatic hypoplasia

PS concomitant with situs inversus totalis (SIT) and pancreatic hypoplasia is very rare in the general population.

Both magnetic resonance imaging (MRI) and CT demonstrated polysplenia, SIT, and pancreatic hypoplasia as incidental findings.

An Unusual Presentation of Pancreatic Dorsal Agenesis

The Mitchell Riley Syndrome is a recently diagnosed genetic disorder characterised by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, malrotation, biliary atresia, and gallbladder aplasia or hypoplasia.

We report a case with neonatal diabetes, pancreatic hypoplasia gall bladder agenesis, duodenal atresia, haemochromatosis, hypospadias and intrauterine growth restriction with some additional features along with a different mutation in the RFX6 gene which has not been reported before.

The Mitchell-Riley syndrome (1) is a recently diagnosed genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia (2).

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome