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Unilateral transverse arm defect with subterminal digital nubbins
Ronny I Drapkin1, David R Genest, Lewis B Holmes
1Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.
Summary
A rare case of unilateral transverse forearm deficiency was identified in a fetus. Unique osteocartilaginous tissue was found in the subterminal digit-like nubbins, a novel finding in limb defects.
Area of Science:
- Developmental biology
- Medical genetics
- Fetal pathology
Background:
- Terminal transverse limb defects are rare congenital anomalies.
- Prenatal diagnosis can be challenging, necessitating detailed pathological examination.
- Understanding the morphology of residual limb structures is crucial for classification.
Observation:
- A second-trimester fetus presented with unilateral terminal transverse forearm deficiency.
- Ultrasound suggested absence of the distal right arm and hand.
- Pathologic evaluation revealed distal forearm shortening with five subterminal digit-like nubbins.
Findings:
- Histologic examination of the nubbins revealed previously undescribed osteocartilaginous tissue.
- The limb vessels were histologically normal.
- No evidence of intrauterine disruption was found in the amnion.
Implications:
- This case expands the understanding of terminal transverse limb defects.
- The presence of osteocartilaginous tissue in nubbins offers new insights into limb development.
- Further research is needed to elucidate the etiology and developmental mechanisms of such anomalies.