The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx

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The Gale Genetic Disorders of encyclopedia vol 1 - part 1 ppsx

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[...]... to the bone on the outside of the body Over a period of 18 -2 4 months, the tension on these rods is increased, which results in the lengthening of the underlying bone This procedure is long, costly, and has potential complications such as pain, infections, and nerve problems Limb-lengthening can increase overall height by 12 -1 4 in (30. 5-3 5.6 cm) It does not change the other physical manifestations of. .. disorder the patient will have The most severe of these disorders is type 1B Since both type 1A and 1B follow autosomal recessive patterns of inheritance, the chance of parents having another child with the disorder after having the first child is 25% for both disorders Similar to achondrogenesis type 1B, achondrogenesis type 2 represents the most severe disorder of a group of disorders resulting from the. .. 8923, New Fairfield, CT 06 812 -8 923 (203) 74 6-6 518 or (800) 99 9-6 673 Fax: (203) 74 6-6 4 81 Ͻhttp://www rarediseases.orgϾ National Society of Genetic Counselors 233 Canterbury Dr., Wallingford, PA 19 08 6-6 617 ( 610 ) 872 -1 1 92 Ͻhttp://www nsgc.org/GeneticCounselingYou.aspϾ National Tay-Sachs and Allied Diseases Association 20 01 Beacon St., Suite 204, Brighton, MA 0 213 5 (800) 9068723 ntasd-Boston@worldnet.att.net... communication about Accutane with their patients rather than using each of the elements of the PPP kit The patient brochure was frequently used but other components of the kit were considered inconvenient and too time-consuming Both Roche and the FDA agreed that certain parts of the PPP needed strengthening Additional support came in the form of a report published in the CDC-sponsored periodical, Morbidity... sample of tissue from a fetus is obtained by either chorionic villi sampling (CVS) or by amniocentesis Chorionic villi sampling is generally done between 10 -1 2 weeks of pregnancy and amniocentesis is done between 16 -1 8 weeks of pregnancy Chorionic villi samGALE ENCYCLOPEDIA OF GENETIC DISORDERS Achondroplasia pling involves removing a small amount of tissue from the developing placenta The tissue in the. .. group of 23 women was identified in California, all of whom had taken Accutane while pregnant During March 19 99, a representative from the CDC interviewed a total GALE ENCYCLOPEDIA OF GENETIC DISORDERS Of greater interest to the authors, however, were some of the factors that contributed to the occurrence of these pregnancies in the first place Some of the women had obtained Accutane from a source other... are the major findings in the mid -part of the face The mouth is wide and the chin small As the face elongates in adult life, the prominence of the forehead and the increased space between the eyes becomes less apparent Dental abnormalities include slow eruption, missing teeth, and broad upper incisors The fingers are often held in a distinctive position with flexion at the joint between the hand and the. .. extension at the first joint of the finger and flexion at the second joint This hand posturing becomes more obvious when there is an attempt to spread the fingers There may also be some mild webbing between the fingers The fingers are short and there is often only a single crease across the middle of the palm The toes are also short and the foot is often bent inward at its middle portion All of the joints... Changes are present in the upper, middle, and lower portion of the face Increased width of the forehead, growth of scalp hair into the middle of the forehead (widow’s peak), increased space between the eyes (ocular hypertelorism), a downward slant to the eye openings, and drooping of the upper eyelids (ptosis) are the major features in the upper part of the face A short nose with forward-directed nostrils... Unit at the Boston University School of Public Health Representatives from both institutions reviewed their outcome data up to that time This data supports previous estimates of the frequency of AE GALE ENCYCLOPEDIA OF GENETIC DISORDERS A total of 1, 995 exposed pregnancies have been reported between the years 19 82 and 2000 These pregnancies have been voluntarily reported either directly to the manufacturer . w0 h0" alt="" The GALE ENCYCLOPEDIA of Genetic Disorders The GALE ENCYCLOPEDIA of Genetic Disorders STACEY L. BLACHFORD, EDITOR VOLUME A-L 1 The GALE ENCYCLOPEDIA of GENETIC DISORDERS STAFF Stacey. MI 483 3 1- 3535 All rights reserved including the right of reproduction in whole or in part in any form. ISBN 0-7 87 6-5 612 -7 (set) 0-7 87 6-5 613 -5 (Vol. 1) 0-7 87 6-5 614 -3 (Vol. 2) Printed in the United. alk.paper 1. Genetic disorders Encyclopedias, Juvenile. [1. Genetic disorders Encyclopedias. 2. Diseases—Encyclopedias.] I. Blachford, Stacey. RB155.5 .G35 20 01 616 ’.042’03—dc 21 20 010 4 010 0 Introduction

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