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

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

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Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 authors.

Lucy L MpayoDepartment of Pediatric and Child Health, Muhimbili University of Health and Allied Science, P O BOX 65001, Dar Es Salaam, Tanzania.

Haika K MarikiDepartment of Pediatric and Child Health, Muhimbili University of Health and Allied Science, P O BOX 65001, Dar Es Salaam, Tanzania.

Martha MkonyDepartment of Pediatric and Child Health, Muhimbili National Hospital, P O Box 65000, Dar Es Salaam, Tanzania.

Karim ManjiDepartment of Pediatric and Child Health, Muhimbili University of Health and Allied Science, P O BOX 65001, Dar Es Salaam, Tanzania. kpmanji@gmail.com.ORCID http://orcid.org/0000-0002-7069-6408

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6 · The paper itself

Abstract

backgroundFemoral-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.

conclusionThis 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.

Indexed as

Abnormalities, MultipleFemurAbruptio PlacentaeFemaleFolic AcidHumansInfant, NewbornInfant, PrematurePierre Robin SyndromePregnancyFolic AcidAntenatal scanningFemoral–facial syndromePrenatal folate

Identifiers

PMID40140989

DOI10.1186/s13256-025-05181-7

PMCPMC11938744

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