Placental Expression of the Forelimb Patterning Transcription Factor MEIS2 in Trisomy 15.

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.

Association of upper limb meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition in a young adult male.

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.

Meromelia transversa en las cuatro extremidades con facies característica asociadas al abuso de cocaína en el primer trimestre del embarazo / Transverse meromelia in all four limbs with characteristic facie associated with cocaine abuse in the first trimester of pregnancy

Introducción. Las transiciones demográfica y epidemiológica en México permiten que aumente la frecuencia de enfermedades relacionadas con el consumo de drogas ilegales en mujeres que se encuentran en edad reproductiva. El consumo materno de cocaína durante el embarazo está asociado con efectos teratogénicos en el embrión, principalmente en órganos como cerebro, corazón, tracto genitourinario y extremidades, lo que afecta gravemente su función y la calidad de vida de los recién nacidos. Caso clínico. Paciente masculino de tres días de vida extrauterina que presenta meromelia transversa en las cuatro extremidades con facies característica. La madre informó que consumió cocaína antes y durante el primer trimestre del embarazo; esto se confirmó con el reporte toxicológico de la orina. Conclusiones. Es importante llevar a cabo el estudio de los casos asociados con el consumo de agentes teratogénicos, para ampliar el conocimiento científico, y establecer medidas de prevención y tratamiento de estas patologías.

Background. The epidemiological and demographic transition in Mexico demonstrates the frequency of health-related conditions related to illegal drug use in women of childbearing age. Maternal abuse of cocaine during pregnancy is associated with teratogenic effects in the embryo affecting chiefly brain, heart, urogenital tract and extremities, with serious consequences affecting function and/or quality of life of the newborns. Case report. We present the case of a 3-day-old male who presented transverse meromelia in all four limbs with characteristic facie. Parents reported consumption of cocaine. The mother reported consuming cocaine prior to and during the first trimester of pregnancy and self-report was verified along with toxicological urine testing. Conclusions. Studies associated with consumption of teratogenic agents are important to carry out in order to expand scientific knowledge and to establish measures of prevention and treatment of these pathologies.