• This expanded craniofacial characterization helps link disease features and improves our ability to evaluate how underlying genetic and cellular abnormalities culminate in a disease phenotype. (ajnr.org)
  • A clinical geneticist should assess affected patients to establish a definitive diagnosis, which is essential for formulating an optimal treatment plan, providing anticipatory guidance and genetic counseling, and identifying relatives at risk of similar abnormalities. (merckmanuals.com)
  • In children, craniofacial reconstruction is done to repair abnormalities in the shape of the child's skull and facial features resulting from birth defects or genetic disorders. (surgeryencyclopedia.com)
  • A genetic counselor also counsels your family regarding risk for craniofacial abnormalities to happen in future pregnancies. (chkd.org)
  • Many individuals with Chromosome 15 Ring have some features similar to those associated with Russell-Silver syndrome (RSS), which is a genetic disorder characterized by growth deficiency and short stature, distinctive facial abnormalities, and other features. (rarediseases.org)
  • These Cdon lacZ-2 (or Cdo lacZ-2 ) mice are a genetic model of HPE and may be useful in studying craniofacial/brain development and the regulation of Sonic Hedgehog (Shh) signaling pathways, as well as for lacZ expression in Cdo-expressing tissues. (jax.org)
  • For example, the penetrance and expressivity of HPE phenotypes for Cdo-deficient mice is dependent upon genetic background: homozygotes on the C57BL/6 genetic background display severe semilobar HPE and cebocephaly and perinatal lethality with high penetrance, while homozygotes on a mixed 129/Sv x C57BL/6 genetic background display craniofacial microforms of HPE with high penetrance and partial perinatal lethality. (jax.org)
  • However, environmental exposures may play a role, especially in combination with genetic abnormalities. (rochester.edu)
  • Those observations include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing brain that can result in behavioral, learning, and cognitive abnormalities. (asu.edu)
  • Heavy exposure during development may lead to the condition Fetal Alcohol Syndrome (FAS), characterized by growth deficits, neurological deficiencies and minor facial abnormalities. (asu.edu)
  • At Johns Hopkins, your child will benefit from the combined insights of neurosurgeons, pediatric craniofacial plastic surgeons, geneticists and occupational therapists, among others, who join together to review your child's unique needs and develop the treatment plan. (hopkinsmedicine.org)
  • Craniofacial reconstruction is a complicated procedure because the surgeon is operating on a part of the body that contains the brain and upper part of the spinal cord, the eyes, and other sensory organs, and the opening of the patient's airway-all within a small space. (surgeryencyclopedia.com)
  • Some patients also have abnormalities of the lower airway which can lead to difficulty clearing secretions and increased risk for pulmonary infections. (springer.com)
  • While airway abnormalities may be severe enough to warrant tracheostomy, in the majority of patients, such alterations are at the milder end of the spectrum and may be an occult factor contributing to infections. (springer.com)
  • These mice also exhibit abnormalities of the nasal, frontal and parietal bones, and of the malleus in the middle ear. (nih.gov)
  • Craniofacial abnormalities induced by ectopic expression of the homeobox gene Hox-1.1 in transgenic mice. (mpg.de)
  • 10 , 13 , 14 In this study of a large cohort of patients with HGPS, we reviewed CT, MR imaging, and radiographs to quantify previously noted and new craniofacial imaging features to expand our understanding of the natural history of the disease. (ajnr.org)
  • In the majority of patients, early-onset joint abnormalities, including osteoarthritis and osteochondritis dissecans, were the initial symptom for which medical advice was sought. (bmj.com)
  • Cardiovascular abnormalities were present in almost 90% of patients, and involved mainly aortic aneurysms and dissections. (bmj.com)
  • Of the patients who first presented with joint abnormalities, 20% died suddenly from aortic dissection. (bmj.com)
  • For the past 20 years Dr. Stein has performed craniofacial procedures on patients of all ages with great success. (flurl.com)
  • However statistically even the most complex craniofacial operations rarely produce severe complications and the less complicated procedures hardly even cause patients serious problems. (flurl.com)
  • Fiberoptic intubation is relatively contraindicated in patients with craniofacial trauma who are actively bleeding into the oropharynx. (medscape.com)
  • Obstructive sleep-disordered breathing (SDB) includes a range of nocturnal breathing abnormalities, ranging from habitual snoring to frank OSA. (uptodate.com)
  • Symptoms and associated abnormalities of encephaloceles may include hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. (nih.gov)
  • Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. (ajnr.org)
  • To find out more about how you can help with resources for research and training that will improve prevention and correction of these craniofacial abnormalities, contact the Craniofacial Foundation of Utah today. (cranioutah.com)