IMPE Abstracts

Background: 2q37 deletion syndrome is a rare chromosomal abnormality (OMIM #600430) also called brachydactyly mental retardation syndrome (BDMR), or Albright Hereditary Osteodystrophy-like syndrome (AHO). It is characterized by a wide spectrum of clinical findings including mild to moderate psychomotor developmental delay/intellectual disability, brachydactyly type E, short stature, obesity, hypotonia, characteristic facial dysmorphism, hypermobility /joint di...