Congenital limb anomalies are rare. Acheiria is a congenital limb abnormality that presents as an absence of the hand and it is often diagnosed by prenatal ultrasonography. Herein we present a case of an 11-year-old female patient with acheiria. This case stresses on further studying the relationship between advanced pregnancy age, drugs or herb use during pregnancy and acheiria.
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| http://dx.doi.org/10.1016/j.radcr.2022.09.023 | DOI Listing |
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A case of acheiria.
Radiol Case Rep
December 2022
The University of Jordan, Faculty of Medicine, Amman, Jordan.
Congenital limb anomalies are rare. Acheiria is a congenital limb abnormality that presents as an absence of the hand and it is often diagnosed by prenatal ultrasonography. Herein we present a case of an 11-year-old female patient with acheiria.
View Article and Find Full Text PDFThe first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography.
Am J Case Rep
April 2013
Department of Obstetrics and Gynecology, University of Kafkas, Kars, Turkey.
Background: The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey.
Case Report: Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder.
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.
Am J Med Genet A
June 2005
Genetic Health Services Victoria, MCRI, Parkville, Australia.
We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.
View Article and Find Full Text PDFCongenital short bowel syndrome with left acheiria: report of one case.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
December 1997
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
A case of congenital short bowel syndrome with left acheiria, hemivertebra and dextrocardia is described. Dilatation of the fetal bowel was observed at the 24th week of gestation during a routine ultrasonic scan of a healthy 23-year-old primigravida from a non-consanguineous marriage. Amniocentesis and chorionic villus sampling were denied.
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