Cleidocranial dysostosis. Prenatal ultrasound diagnosis of a late onset form
نویسندگان
چکیده
منابع مشابه
A familial case of cleidocranial dysostosis presenting upper limb ischemia.
CONTEXT Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented. This uncommon condition is an exceedingly rare cause of vascular compression that gives rise to thrombosis of the axillary-subclavian arteries. O...
متن کاملTreatmentapproaches to Cleidocranial Dysostosis: a Review and a Case Report
Cleidocranial dysostosis is a generalized skeletal dysplastic condition and primarily affects the development of the bones and teeth. The genetic etiology lies on chromosome number 6p21, core binding factor (CBFA1). This paper explains the treatment procedure carried out for a sixteen year old female patient diagnosed with cleidocranial dysostosis. Therapy includes surgical removal or exposure ...
متن کاملFamilial Occurrence of Cleidocranial Dysostosis: A Case Report
Cleidocranial dysostosis is a rare congenital skeletal disorder, associated with total or partial absence of clavicles, delayed closure of cranial fontanelles and brachycephalic skull. There is delayed exfoliation of primary dentition and eruption of permanent teeth. Presence of multiple supernumerary teeth and morphologic abnormalities of the maxilla and mandible are also observed. The inciden...
متن کاملCleidocranial dysostosis--a case report and review of the literature.
Cleidocranial dysostosis is a generalised dysplasia of bone and teeth with predominantly autosomal dominant inheritance. A new case referred to the Paediatric Department at the British Military Hospital, Rinteln is reported and a review of the literature discussed.
متن کاملIntroducing a Specimen of Annular Pancreas (with late-onset Symptoms)
Annular pancreas is a relatively rare congenital diseasecaused by an embryologica1and anatomical disturbance in pancreas It may have no sympforns throughout the life and so occasionally discovered during an unrelevant surgery or autopsy but in most of the cases it shows itself as a duodenal obstruction during the infancy and childhood.Very rarely symptoms of the disease my be observed in adul...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2000
ISSN: 0960-7692
DOI: 10.1046/j.1469-0705.2000.00151.x