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Macau Periodical Index (澳門期刊論文索引)

Author
Bandeira, Nelson; Wong, Keong
Title
A case of thanatophoric dysplasia type I at 15 weeks of gestation
Journal Name
澳門醫學雜誌
Pub. Info
2001年6月26日, Vol.1, No.2, pp. 122-124
Keyword
Dysplasia;Sonographic;Early pregnancy
Abstract
Abstract : We describe a case of thanatophoric dysplasia (type I) that was diagnosed at 15 weeks of gestation on a dating scan. The fetus was visualized within the limbs deformed under sonographyic scan. The fetus had shown the limbs were shorter than normal (<2SD), with small chest and protruding abdomen. These finding do supported limbs dysplasia that the thanatophoric dysplasia to be suggested. The follow examination of amniocentesis and PCR had confirmed the diagnosis.      Paragraph Headings: 1. Introduction 2. Case report                                                     3. Discussion                                             3.1. Differential diagnosis 3.2. Prognosis                                         3.3. Management Figures:                                                        1. Thanatophoric dysplasia with short upper limbs 2. 21weeks gestation fetus after induction labor showing typical features of thanatophoric dysplasia described in text 3. Radiograph of fetus with thanatophoric dysplasia(21 weeks)