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RE: ostéochondrodysplasiasFrom: DuBose, Terry (DuboseTerryJ@uams.edu)Thu Aug 16 10:30:31 2001
I also found the following in the Stedman's Electronic Dictionary, however your question is the 1st trimester Dx. Is this an academic question, or are you actually dealing with a case? I am not sure anyone has a large enough population of these relatively rare conditions to have much data on 1st trimester Dx. Do you have images that you can share with the participants here? If you do, this could be a real learning experience for all of us. Morquio syndrome [MIM*253000, MIM*253010, MIM*230500]; an error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterized by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IVA mucopolysaccharidosis is due to an absence of galactose-1-sulfatase and is caused by mutation in the N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS) on 16q, while type IVB is due to a deficiency of a *-galactosidase, and is caused by mutation in *-galactosidase gene (GLB1) on 3p. Syn: Brailsford-Morquio disease, Morquio disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis. Peace, Terry J. DuBose, M.S., RDMS, APS Assistant Professor & Director, Diagnostic Medical Sonography Program CHRP, University of Arkansas for Medical Sciences Little Rock, Arkansas, USA 501-686-6510 http://www.io.com/~dubose/ http://www.uams.edu/CHRP/dmshome.htm http://www.obgyn.net/us/panel/panel.htm -----Original Message----- From: Claude.COLIN [mailto:claude.colin@worldonline.fr] Sent: Thursday, August 16, 2001 9:54 AM To: Multiple recipients of list ULTRASOUND Subject: ostéochondrodysplasias For you which are the possibles diagnosis of ostéochondrodysplasias in the First-trimester with the Ultrasonography ?? Surely : Achondrogénèsis type I or II thanatophoric dysplasia osteogenesis imperfecta in its lethal form. Hypophosphatasia. Short-rib polydactyly dysplasia May be ? Chondroectodermal dysplasia (Ellis-van Creveld syndrome) Dysplasia of Blomstrand?? Nanism campomelic???? with its curved bones (tibia and fémur) Atélostéogénèsis ??? anomaly of the cervical curve and defect of ossification of the hands and feet. Dr Claude COLIN Gyn-Obst CH PAIMPOL FRANCE claude.colin@worldonline.fr
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