Pediatric Services Other — reconstructive surgery for
craniofacial abnormalities in children — for individual and large groups including HMOs
Such basic knowledge about the development of teeth or bones adds to understanding of
craniofacial abnormalities, which are among the most common birth defects in humans.
«Among families having several members with SMCHD1 mutations, we observed some who did not have complete arhinia but had an abnormally small nose or lacked a sense of smell, as well as the one individual that had symptoms of FSHD2 but
no craniofacial abnormalities, indicating this is not a simple genetic model,» says Talkowski.
«Fascinating genetic studies had been done on SMCHD1 that linked the gene to FSHD2, a rare muscular dystrophy involving the interaction of multiple genetic sites, but it had never been connected to
craniofacial abnormalities,» says Michael Talkowski, PhD, of the MGH Center for Human Genetic Research, co-senior author of the Nature Genetics paper.
Exclusion criteria: infants or mothers with positive drug screen, infants with
craniofacial abnormalities, infants admitted to NICU
Not exact matches
We propose that ZNF462 plays an important role in embryonic development, and is associated with
craniofacial and neurodevelopmental
abnormalities.
The disease is reminiscent of the choroidal hypoplasia phenotype observed in humans in conjunction with
craniofacial or renal
abnormalities.