Please note that access most of the resources listed below, you will need to be logged in to the WFBMC VPN.
Please review all schedules in WakeOne for the most up-to-date clinic schedule ('MC BC 07 Pediatric Medical Genetics' in WakeOne).
Most clinics start at 8:30am and are on the 7th floor of the Ardmore Tower in the Pediatric Specialty Clinic of the Brenner Children's Hospital. The exceptions are satellite clinics that are generally the first three Mondays of the month, and a cleft palate-craniofacial disorders clinic on the second and fourth Thursday afternoons in a month.
Consults are typically done in the afternoons or on non-clinic days.
- Nussbaum, McInnes, Willard (eds). Thompson and Thompson Genetics in Medicine, 2007.
- Jones (ed). Smith's Recognizable Patterns of Human Malformation, 2013.
- Hennekam, Krantz, Allanson (eds). Gorlin's Syndromes of the Head and Neck. 2010.
- Online Mendelian Inheritance in Man (OMIM)
- Karyotyping exercises
- Dr. Klinepeter's article on "Developmental 'Red Flags'" from Triad Smarty Pants
- Tokyo Medical University Genetics Study Group
American Journal of Medical Genetics, Vol 149A, January 2009
- Head and Face
- Periorbital Region
- Nose and Philtrum
- Lips, Mouth, and Oral Region
- Hands and Feet
Working with Children with Genetic Conditions and Special Healthcare Needs
- Welcome to Holland (a poem about having a child with a birth defect or genetic syndrome)
- Health supervision for children with Down syndrome, Pediatrics 2011
- Health supervision for children with Neurofibromatosis type 1, Pediatrics 2008
- Health supervision for children with Fragile X syndrome, Pediatrics 2011
- Care of girls and women with Turner syndrome, J Clin Endo Metab 2007
- Fragile X: A family of disorders, Adv Pediatr 2009
- Practical guidelines for managing patients with 22q11.2 deletion syndrome, J Pediatrics 2011
- Fetal alcohol spectrum disorders (1), Pediatrics 2004
- Fetal alcohol spectrum disorders (2), Neurosci Biobehav Rev 2007
- Short stature syndromes and epigenetics, Am J Med Genet 2010
- Isolated hemihyperplasia, Genet Med 2009
- Genetic evaluation of hypotonia, Develop Med and Child Neurol 2011
Connective Tissue Conditions
- Ehlers-Danlos syndrome classification, AJMG 1998
- Ehlers-Danlos syndrome hypermobility type, AJMG 2010
- Joint hypermobility - a not so benign condition, Rheumatology 2005
- Medical management of Marfan syndrome, Circulation 2008
- Loeys-Dietz syndrome, Curr Opinion in Cardiology 2010
Inborn Errors of Metabolism
- Inborn errors of metabolism part 1, Pediatr in Rev 2009
- Inborn errors of metabolism part 2, Pediatr in Rev 2009
- North Carolina newborn screening, J Inherit Med Dis 2006
Genetic Testing and Genomics
- Microarray analysis in patients with mental retardation and multiple congenital anomalies, Anal NY Acad Sci 2009
- Genomic medicine primer, NEJM 2010
- Diagnostic Clinical Genome and Exome Sequencing, NEJM 2014