We present a case of unilateral terminal transverse forearm deficiency with subterminal digit-like nubbins, identified in a fetus from a pregnancy terminated electively in the second trimester because the distal right arm and hand could not be seen by ultrasound and were presumed to be absent. Pathologic evaluation showed distal transverse shortening, tapering to a point in the mid-forearm. Five primitive digital nubbins were present, located just proximal to the tapered point. The arm vessels appeared normal histologically, and the amnion showed no evidence of intrauterine disruption. Histologic examination of the nubbins revealed osteocartilaginous tissue, never described previously within digital nubbins. This fetus has the rare phenotype of terminal transverse limb defects with residual nubbins, but differs in that the nubbins are not at the tip of the terminal transverse limb defect.
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http://dx.doi.org/10.1007/s10024-002-0112-z | DOI Listing |
J Hand Surg Am
January 2016
Department of Orthopaedic Surgery and Rehabilitation, Loyola University Medical Center, Maywood, IL.
Symbrachydactyly is a congenital hand difference that presents with diverse morphologic forms and can be confused with many other congenital hand differences. Congenital hand difference classification schemes categorize symbrachydactyly as an undergrowth or failure of axis formation. It is further categorized by the number of affected fingers, by morphologic characteristics, and by the functional status of the hand.
View Article and Find Full Text PDFPediatr Dev Pathol
May 2004
Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.
We present a case of unilateral terminal transverse forearm deficiency with subterminal digit-like nubbins, identified in a fetus from a pregnancy terminated electively in the second trimester because the distal right arm and hand could not be seen by ultrasound and were presumed to be absent. Pathologic evaluation showed distal transverse shortening, tapering to a point in the mid-forearm. Five primitive digital nubbins were present, located just proximal to the tapered point.
View Article and Find Full Text PDFTeratology
April 1995
Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts 02115, USA.
A 20-week gestation hydropic Thai fetus is reported who had symmetrical absence of each hand and forefoot with persistence of digit-like nubbins on each limb. The histologic studies showed there was calcified acellular material in the digit-like nubbins, consistent with infarcted blood vessels, and cartilaginous structures that represented possibly the distal metacarpal articulating surface. The red blood cell indices of both parents were consistent with their being heterozygous for a hemoglobinopathy, such as alpha-thalassemia, which is common in Thais.
View Article and Find Full Text PDFUrol Radiol
March 1988
Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, CT 06510.
The loss of parenchyma in the lower pole of a kidney with a duplicated collecting system may mimic a mass on urography ("the nubbin sign"). Computed tomographic findings of this entity are diagnostic. The diagnosis may be difficult to make using sonography alone.
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