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Background <p>Femoral–facial syndrome is a very rare condition that occurs sporadically. Few cases have been linked to maternal diabetes and genetic origin. We report a case of a preterm infant.</p> Case report <p>A 1-day-old Black Bantu African female baby was admitted to the neonatal unit owing to multiple congenital anomalies. The mother did not seek any medical attention until her early third trimester when she had an abruptio placenta. The mother has never received antenatal folic acid supplementation.</p> <p>The baby had microcephaly, low-set ears, right cleft palate and lip, micrognathia, contracture, and shorter limbs. A skeletal X-ray showed femoral hypoplasia.</p> <p>We report this rare case and highlight the challenges in diagnosis and treatment.</p> Conclusion <p>This is an unfortunate occurrence. Early antenatal folic acid supplementation may have averted this. An early antenatal anomaly scan and investigation after abruptio placenta would have shown the futility of the case, and intervention could have been done sooner rather than later.</p>

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Femoral–facial syndrome in a Black Bantu African preterm infant: a case report

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  • 发表日期：

    2025年3月26日

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  • Lucy L. Mpayo,
  • Haika K. Mariki,
  • Martha Mkony,
  • Karim Manji

摘要

Background

Femoral–facial syndrome is a very rare condition that occurs sporadically. Few cases have been linked to maternal diabetes and genetic origin. We report a case of a preterm infant.

Case report

A 1-day-old Black Bantu African female baby was admitted to the neonatal unit owing to multiple congenital anomalies. The mother did not seek any medical attention until her early third trimester when she had an abruptio placenta. The mother has never received antenatal folic acid supplementation.

The baby had microcephaly, low-set ears, right cleft palate and lip, micrognathia, contracture, and shorter limbs. A skeletal X-ray showed femoral hypoplasia.

We report this rare case and highlight the challenges in diagnosis and treatment.

Conclusion

This is an unfortunate occurrence. Early antenatal folic acid supplementation may have averted this. An early antenatal anomaly scan and investigation after abruptio placenta would have shown the futility of the case, and intervention could have been done sooner rather than later.