Meromelia refers to the partial absence of at least 1 limb and is also referred to as \"terminal transverse hemimelia.\" It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity. A case of upper limb meromelia accompanied by proximal focal femoral deficiency and fibular hemimelia in a neonate has previously been reported. However, to our knowledge, the association of upper limb meromelia with intermetatarsal coalition has never been reported to date. Here, we present an adult patient showing an unusual association of multiple rare congenital skeletal abnormalities including meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition.

BackgroundObservations of first trimester human trisomy 15 (T15) embryos have identified meromelic changes in the upper limbs. These changes are similar to those observed in animal studies investigating the effects of overexpression of Meis2, a signaling transcription factor expressed during forelimb development. Although it would be exceedingly difficult to assess MEIS2 expression in the human embryonic arm, MEIS2 has been reported as consistently expressed in first trimester placental villus stroma. Methods: This study addresses whether gene dosage effect might underlie meromelia in T15 by comparing MEIS2 expression in placentas from T15 and euploid spontaneous abortions employing manual and automated assessment of MEIS2 immunohistochemical scoring. Results: Average MEIS2 expression is increased in T15 first trimester placental tissue compared to euploid controls but that the difference is marginal. Manual and automated scoring showed moderately strong correlation. Conclusion: Extrapolation of these results suggests MEIS2 overexpression may not be required for meromelia in T15.