Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3) that is important for the maintenance of bone and brain tissues. The mutation limits the process of ossification, or the formation of bone from cartilage. The FGFR3 gene is located on the short (p) arm of chromosome 4 in chromosome band 4p16.3.
REFERENCES:
Genetics Home Reference. "Achondroplasia." U.S. National Library of Medicine. 30 Jan. 2012. <http://ghr.nlm.nih.gov/condition=achondroplasia>.
Genetic and Rare Diseases Information Center (GARD). "Achondroplasia." NIH Office of Rare Diseases Research. <http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=8173>.
Lumbar stenosis can be caused by degenerative arthritis (the most common cause), tumor, infection, or metabolic disorders (Paget's disease of the bone). Symptoms include low back pain, weakness, pain, numbness, and loss of sensation in the legs. Other conditions may cause similar symptoms of lumbar stenosis, including diabetic neuropathy, claudication, and peripheral vascular disease. Diagnosis, is a medical history and imaging studies. Lumbar stenosis may be treated with medication or surgery.
Middle ear infection or inflammation (otitis media) is inflammation fo the middle ear. There are two types of otitis media, acute and chronic. Acute otitis media is generally short in duration, and chronic otitis media generally lasts several weeks. Seventy-five percent of children in the U.S. suffer from otitis media at some point. Treatment depends upon the type (chronic or acute).
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Obesity is the state of being well above one's normal weight. A person has traditionally been
considered to be obese if they are more than 20 percent over their ideal weight.
That ideal weight must take into account the person's height, age, sex, and
build.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Kyphosis is outward curvature of the thoracic spine (upper back). Abnormal kyphosis results in the appearance of a hunchback, which is accompanied by back pain, stiffness, and muscle fatigue in the back. There are three types of abnormal kyphosis: postural, Scheuermann's, and congenital kyphosis. Postural kyphosis is caused by poor posture and a weakening of the back's muscles and ligaments. Scheuermann's kyphosis is caused by a structural deformity of the vertebrae. Congenital kyphosis is caused by an abnormal development of the vertebrae prior to birth. Treatment of kyphosis depends upon the type of kyphosis the patient has.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Pregnancy RSS
Healthy Living Tips
This site complies with the