Prenatal diagnosis of femoral–facial syndrome: Report of two cases

Silvas, Emil; Rypens, Françoise; Jovanovic, Mubina; Delezoide, Anne‐Lise; Patey, Natalie

doi:10.1002/bdra.23201

Cited by 6 publications

(3 citation statements)

References 19 publications

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“…Other frequent findings are short broad-tipped nose, upslanting palpebral fissures, cleft palate, and talipes equinovarus. A wide spectrum of other inconsistent malformations is observed, especially involving the skeleton, the genitourinary tract and the central nervous system (CNS) [6], [7], [10], [12], [13], [14], [16]. The etiopathogenesis is still a subject of controversy.…”

Section: Introductionmentioning

confidence: 99%

Femoral-facial syndrome: Report of 2 fetal cases

Darouich

Amraoui

2019

Radiology Case Reports

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Femoral-facial syndrome (FFS) is a congenital disorder, characterized by facial dysmorphism and femoral hypoplasia. We describe the prenatal ultrasound and autopsy findings of FFS in 2 female fetuses born to diabetic mothers. Prenatal ultrasound showed micrognathia, low-set dysplastic ears and very short femora. Autopsy also demonstrated cleft palate, hypoplastic genitalia and visceral malformations including interventricular communication and posthemorrhagic hydrocephalus. Histologic study showed hyperplasia of the islets of Langerhans and femoral cartilage abnormalities. The growth plate displayed poor columnar organization of the growth plate with small zones of chondrocyte hypertrophy. Our case reports and the previously published cases of FFS allow discussing the variable expression of this challenging condition, its strong association with maternal diabetes mellitus and the main differential diagnoses.

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Section: Introductionmentioning

confidence: 99%

Femoral-facial syndrome: Report of 2 fetal cases

Darouich

Amraoui

2019

Radiology Case Reports

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“…FH-unusual facies syndrome is characterized by unilateral or bilateral FH and dysmorphic facies in the form of micrognathia, cleft lip and/or palate, upward slanting of the palpebral fissure, short nose with a broad tip, thin upper lip, and long philtrum. 22,28 As for femur/ fibula/ulnar hypoplasia syndrome; there is an affection of the femur, fibula, and ulna with finger and/or toe anomalies. The affection is more common on the right side and is encountered more frequently in males.…”

Section: Discussionmentioning

confidence: 99%

Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature

Thomas

Tosson

Taher

2020

Journal of Child Science

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Proximal femoral focal deficiency (PFFD) is a rare congenital anomaly of the femur ranging from mild shortening to total agenesis. If left untreated, it could lead to impaired child growth, abnormal gait, vertebral abnormalities, cosmetic problems, and behavioral changes. We report on an Egyptian female, presenting to us at the age of 15 days with a short left lower limb. Both upper limbs and the right lower limb were normal and she was not dysmorphic. The skeletal survey showed an isolated short left femur. At the age of 11 months, clinical reexamination confirmed left femur shortening. Echocardiogram and abdominal sonography revealed no abnormality. Magnetic resonance imaging (MRI) of the pelvis and lower limbs revealed isolated left proximal femoral focal deficiency. Her developmental milestones were normal. She was referred to pediatric orthopaedics for early intervention and proper management. To our knowledge and after reviewing the literature, this patient represents the first case of unilateral isolated proximal focal femoral deficiency in Egypt. In conclusion, PFFD diagnosis needs a systemic skeletal–facial–genital phenotyping to differentiate from overlapping genetic disorders. Early diagnosis and radioimaging are highly important for proper management.

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“…The FFS is a rare condition characterized by unilateral or bilateral femoral hypoplasia that is associated with facial dimorphism that can range from evident micrognathia with or without a cleft lip and/or palate to more subtle features, such as upslanting palpebral fissures, a short nose with a broad tip, a long philtrum, a thin upper lip, maxillary asymmetry, and an isolated cleft palate. Additional malformations have been described occasionally in neonates, including genitourinary and central nervous system anomalies . Sometimes the diagnosis of FFS is made after delivery because prenatal detection of a subtle facial defect is not guaranteed; therefore, we suggest careful exploration of the fetal face on two‐dimensional imaging and, if it is available, taking advantage of three‐dimensional imaging.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings

D’Ambrosio

Pasquali

Squarcella

et al. 2015

J of Clinical Ultrasound

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Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings.

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Prenatal diagnosis of femoral–facial syndrome: Report of two cases

Abstract: FFS represents a severe condition; hence, the importance of an early prenatal diagnosis, especially in light of offering counseling for affected parents.

Cited by 6 publications

References 19 publications

Femoral-facial syndrome: Report of 2 fetal cases

Femoral-facial syndrome: Report of 2 fetal cases

Unilateral Isolated Proximal Femoral Focal Deficiency in an Egyptian Infant and Review of Literature

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings

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