| A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability, dysmorphic craniofacial features and agenesis of the gallbladder. |
