A case of femoral-facial syndrome in a newborn of a Malay diabetic mother: Lessons for primary care
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Nik Khadijah Nik Mustaffa Shapri 1 , Juliawati Binti Muhammad 1 * , Azlina Ishak 1 , Shimilaaida Mohamad Ali Janaf 2 , Mohd Haikal Bin Abdullah Zawavi 3 , Jusoh Awang Senik 2
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1 Department of Family Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, MALAYSIA2 Pasir Mas Health Clinic, Kelantan, MALAYSIA3 Hospital Raja Perempuan Zainab II, Kelantan, MALAYSIA* Corresponding Author

Abstract

Femoral-facial syndrome (FFS) is a rare congenital disorder characterized by femoral hypoplasia and distinctive craniofacial anomalies, and it is frequently associated with maternal diabetes. We report the first documented Malaysian case of FFS in a neonate born to a 36-year-old Malay woman with gestational diabetes and obesity. Early antenatal ultrasound examinations did not detect any abnormalities. Fetal anomalies only became evident later in pregnancy when breech presentation and anhydramnios were noted, highlighting the difficulty of early prenatal diagnosis, particularly among high-risk mothers. A female infant was delivered via caesarean section at 35 weeks’ gestation. She exhibited multiple dysmorphic features, including micrognathia, cleft palate, low-set ears, absence of the femur, hemivertebrae, and polydactyly. Despite multidisciplinary neonatal management, the infant died at two months of age due to severe nosocomial infection.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

ELECTRON J GEN MED, Volume 23, Issue 2, April 2026, Article No: em726

https://doi.org/10.29333/ejgm/18131

Publication date: 15 Mar 2026

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