Symmetrical Terminal Transverse Limb Deficiencies

Excerpt

To the Editor: Two fetuses were evaluated following abortion (fetus 1) or intrauterine demise (fetus 2). In both cases, mothers were primigravidae with no antenatal history of teratogenic exposure. The family history was unremarkable and the couples were non-consanguineous. In fetus 1, antenatal sonography revealed all fetal parameters at 22 wk of gestation. However, hands were not visualized. On examination, the fetus had micrognathia (Fig. 1a and b). There was symmetrical absence of hands and digits with preservation of dorso-ventral differentiation of skin at the limb terminus (Fig. 1a). Lower limbs were normal and internal examination was unremarkable. Radiograph of the hands revealed bilateral absence of metacarpals and phalanges (Fig. 1c). The anthropometric measurements of fetus 2 corresponded to 15 wk of gestation. Fetus had significant nuchal edema. Both hands were underdeveloped with absence of all fingers. Both feet were completely absent (Fig. 2a and b). There were no other external or internal anomalies. Radiographs showed normal long bones. Metacarpals and phalanges in both hands were small. Metatarsals and phalanges in both feet were completely absent (Fig. 2c and d). Unfortunately, due to non-availability of DNA, we were not able to perform any molecular studies.

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