Dr. Mersch received his Bachelor of Arts degree from the University of California, San Diego, and prior to entering the University Of Southern California School Of Medicine, was a graduate student (attaining PhD candidate status) in Experimental Pathology at USC. He attended internship and residency at Children's Hospital Los Angeles.
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
While the complete expression of the physical changes associated with Poland
syndrome vary among patients, common themes include: (1) underdevelopment or
absence of the main chest muscle (pectoralis) as well as secondary muscles of
the chest and armpit region; (2) the end of the pectoralis muscle attachment to
the breastbone (sternum) is absent; (3) the nipple, areola, and (in females)
underlying breast tissue is underdeveloped or absent; (4) short and webbed
fingers (cutaneous syndactyly) on the affected side; and (5) armpit hair on the
affected side is missing.
What other defects are associated with Poland
syndrome?
The child with Poland syndrome usually is entirely normal except for the
problems already noted. The skin in the involved area may be abnormally thinned
or missing underlying fat normally present beneath the skin. Very rarely, the
rib cage on the involved side may be underdeveloped or missing. Equally rare may
be the abnormal development of the shoulder blade (scapula) or bones of the
forearm (radius and ulna) on the affected side of the body. Spine and kidney
malformations are also occasionally reported in patients with Poland syndrome.
Intelligence is not impaired in Poland syndrome.
Does Poland syndrome run in families?
Geneticists currently hold that Poland syndrome is rarely inherited and
generally is a sporadic event. There are rare instances where more than one
individual has been identified with Poland syndrome either in the immediate or
extended family. Experience with an affected parent passing the syndrome to
offspring has been described. Similarly, there are reports in the literature of
affected siblings born to unaffected parents. The exact mode of genetic
transmission has not been determined. Research is centering on inherited
mechanisms dealing with intrauterine reduction of blood flow to the affected
areas.
The time when boys and girls begin the process of sexual maturation is called puberty. During this time, both sexes undergo a series of biological changes that include a rapid increase in height, bone growth, weight increase, the growth of pubic hair, breast development and the onset of menstruation in girls, and testicle, penis, and muscle enlargement in boys.
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.
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