SEARCH.Trisomy trisomy /tri·so·my/ (tri´so-me) the presence of an additional (third) chromosome of one type in an otherwise diploid cell (2n + 1). See also entries under syndrome. triso´mic tri·so·my n. 12p Our 6-year old daughter has been diagnosed with trisomy 12p. In her case, the extra small arm of the chromosome #12 has replaced the small arm of chromosome #15. She just learned to walk, is non-verbal, and severely delayed in all areas of learning. We are looking for contact with other parents who have children with this condition, as well as parents who are homeschooling their child with special needs. S.C., E-mail Carpal tarsal tarsal /tar·sal/ (tahr´s'l) pertaining to a tarsus. tar·sal adj. 1. Of, relating to, or situated near the tarsus of the foot. 2. osteolysis osteolysis /os·te·ol·y·sis/ (os?te-ol´i-sis) dissolution of bone; applied especially to the removal or loss of the calcium of bone.osteolyt´ic os·te·ol·y·sis n. Our 13-year-old son has a condition known as carpal tarsal osteolysis, a disease involving bone deterioration of the bones in the wrists and ankles. He began having pain in the wrist and ankles when he was 6 months old. Over the years, the condition has worsened, and he has developed severe deformities in his wrists, elbows, knees, ankles, and feet. He has significant disabilities and is only able to walk short distances. Also as a result of this condition, he has kidney disease. A biopsy of his kidney shows he has focal glomerular glomerular /glo·mer·u·lar/ (glo-mer´u-ler) pertaining to or of the nature of a glomerulus, especially a renal glomerulus. glo·mer·u·lar adj. sclerosis (hardening of the filtering apparatus in the kidney). He has Biphosphanate infusion every 3 months and he is currently taking an ACE (angiotensin converting enzyme) inhibitor to protect his remaining kidney function. He has had numerous operations on his feet and ankles. We are considering the idea of fusing his ankles (arthrodesis arthrodesis /ar·thro·de·sis/ (-de´sis) the surgical fixation of a joint by a procedure designed to accomplish fusion of the joint surfaces by promoting the proliferation of bone cells; called also artificial ankylosis. ) to relieve some of his pain. We are particularly interested in finding someone older than our son with this condition. S.P. and G.P., E-mail Multiple congenital anomalies I have a 26-month-old who was born with multiple birth defects. She has a club foot, cleft palate, agenesis of the corpus callosum Agenesis of the Corpus Callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. Agenesis of the corpus callosum occurs when the corpus callosum, the band of tissue connecting the two hemispheres of , and had heart surgery at the age of 10 months to repair a patent ductus arterosus (abnormal, persistent fetal connection between the left pulmonary artery and descending aorta). An EEG showed an abundance of seizure activity. Although there was no outward sign of activity, she takes medication for seizures. The pediatric pediatric /pe·di·at·ric/ (pe?de-at´rik) pertaining to the health of children. pe·di·at·ric adj. Of or relating to pediatrics. endocrinologist believes she has a growth hormone deficiency growth hormone deficiency Hypopituitarism Endocrinology A condition which affects 1:4000 children; ♂:♀, 3-4:1 Etiology 70% of GHD is idiopathic and attributed to a prenatal insult, possibly due to hypothalamic dysfunction, given that GHD children , but has not started treating her for it. She weighs 14 pounds and is 25 inches long. She has wide-set eyes and dysmorphic facial features. She is at the development stage of a 5 or 6-month-old. The genetisist has yet to give her a "diagnosis" and all the test results (blood, skin biopsy, etc.) are normal. I would love to be a support link for other families or to hear from anyone who has a child with similar anomalies. R.F., E-mail |
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