Case Report

Pediatric and Developmental Pathology

, Volume 6, Issue 4, pp 348-354

First online:

Unilateral Transverse Arm Defect with Subterminal Digital Nubbins

  • Ronny I. DrapkinAffiliated withDepartment of Pathology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115Department of Pathology, Harvard Medical School, Boston, MA
  • , David R. GenestAffiliated withDepartment of Pathology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115Department of Pathology, Harvard Medical School, Boston, MA
  • , Lewis B. HolmesAffiliated withGenetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, MA
  • , Taosheng HuangAffiliated withDivision of Genetics and Metabolism, Children’s Hospital, Boston, MA
  • , Sara O. VargasAffiliated withDepartment of Pathology, Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115Department of Pathology, Harvard Medical School, Boston, MADepartment of Pathology, Children’s Hospital, 300 Longwood Avenue, Boston, MA 02115 Email author 

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Abstract

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.

Keywords

acheiria congenital anomaly congenital limb deformity limb deficiency limb reduction defect nubbins