Femoral–facial syndrome in an infant of a diabetic mother

Abstract

Femoral-facial syndrome (FFS) is a very rare multiple congenital anomaly syndrome. The authors describe a case of FFS in a 2-day-old infant of a diabetic mother. The phenotypic features include bilateral symmetrical femoral involvement with completely aplastic right-sided femur, severely hypoplastic left femur and unusual facial dysmorphic features without other skeleton/spinal and genitourinary anomalies. Cases of FFS need to be carefully evaluated because of the similarity between FFS and caudal dysgenesis, a condition frequently related to maternal diabetes and with other syndromes characterised by femoral hypoplasia and associated anomalies, which can pose a diagnostic challenge.

Femoral‐facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair

“…Although 120 patients reported in the literature as FFS were identified, only 54 were considered appropriate to be included in this work. (Ahmed et al, ; Aksoy et al, ; Alao et al, ; Burck et al, ; Düzcan et al, ; Garcia et al, ; Giacoia & Tunnessen, ; Goldberg et al, ; Graviss et al, ; Ho et al, ; Leal et al, ; Lomo & Headings, ; Manohar, ; Palit et al, ; Poon et al, ; Shenoy et al, ; Squiers et al, ; the remainder references appear throughout the text. Besides, all the references are in table 1 of Supplemental materia)…”

The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient

“…Regarding the pathogenesis of this disease process, patients with FFS born to a nondiabetic mother may be linked to a genetic aberration in the terminal end of the 2 nd chromosome, 2q37.2 [7]. However, most cases occur sporadically, and several cases have shown autosomal dominant inheritance though multifactorial inheritance seems more likely [3,[8][9][10]. To the best of our knowledge, autosomal recessive inheritance has been suggested in only one instance [11].…”

“…The cause of FFS has yet to be elucidated [3]. Most cases occur sporadically in females, and a significant association with gestational diabetes has been established [3][4][5][6]. Herein, we present a case of femoral-facial syndrome born to a mother with maternal diabetes and preeclampsia.…”

“…Almost all major systems have been reported in cases of FFS in the literature, though key features include some form of hypoplasia to the bilateral lower extremities and facial anomalies. The cause of FFS has yet to be elucidated [3]. Most cases occur sporadically in females, and a significant association with gestational diabetes has been established [3][4][5][6].…”

First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation

“…Femoral hypoplasia with unusual facies syndrome (FHUFS), now known as femoral facial syndrome (FFS), is a rare condition categorized by femoral hypoplasia with the presence of at least two facial anomalies such as micrognathia, cleft palate, thin upper lip, short nose, up-slanting palpebral fissures, and low set ears [ 1 - 5 ]. These criteria are essential to help differentiate FFS from other similarly presenting conditions such as caudal dysplasia syndrome [ 1 , 2 , 6 - 8 ]. Literature on FFS is limited with approximately 70 reported cases worldwide, affecting African American, Arab, Caucasian, and Chinese populations as of 2021 [ 1 , 3 , 4 , 6 , 9 ].…”