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- Title
CONGENITAL BILATERAL RADIUS APLASION - A CASE REPORT.
- Authors
Grdinić, Aleksandar; Miketić, Vojislav; Šimun, Vojislav; Knežević, Petar
- Abstract
Congenital bilateral radius aplasion is a very rare fetal anomaly, which is often conjured with other anomalies such as haematolocigal, urogenital or skeletal. If found with pancitopenia its called Fanconi anaemia, but with isolated thrombocytopenia it makes TAR syndrome. Isolated bilateral radial aplasia is extremely rare (1 in 200000 cases). Etiology of this condition is still questionable. This is a case of 32-year old patient, primipara, 27 gestational weeks with no disease history, who was sent to our clinic for further examination. Pregnancy was regularly controlled with normal prenatal tests (Double test). The ultrasound examination showed the fetus with all heart and cerebral structures were normal. Nasal bone, facial structures and upper palate were also regular, both forearms had only one deformed bone (ulna) with hands in hyperreflexed position. Upper hand, legs and feet were normal structure. In order to confirm diagnosis and to decide on further treatment, patient was presented to the Consilium for Congenital Anomalies. Patient was advised, because of severe fetal anomaly which heavily aggaviates the quality of postnatal life, to terminate the pregnancy. Feticid was done, by the approval of Ethical Comitee, and fetal blood sample was taken for futher genetical and hematological examination. After administration of prostaglandins, death fetus of female sex was born, 920 grams in weight, with visibly deformed and short both forearms and crumpled hands. Billateral radial aplasion was confirmed by X ray examination upon the birth. Fetus afterwards was sent to autopsy. Karyotype was found normal for female sex (46, XX). The goal of this rare case presentation is to show the importance of its early detection, which is archiavable by ultrasound exam, and thus enables prevention of heavy postnatal disablement.
- Subjects
SERBIA; THROMBOCYTOPENIA absent radius syndrome; CONFERENCES &; conventions; PRENATAL diagnosis; FETUS; DIAGNOSIS
- Publication
Journal of Perinatal Medicine, 2017, Vol 45, p284
- ISSN
0300-5577
- Publication type
Article
- DOI
10.1515/jpm-2017-3002