| Facial femoral syndrome | |
|---|---|
| Other names | Femoral Hyperplasia-Unusual Facies syndrome |
Facial femoral syndrome is a rare congenital disorder.[1] It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.[2]
Signs and symptoms
- Facial
- Lips - Cleft palate and/or thin lips. Prominent philtrum
- Jaw - Small and/or retracted jaw (micrognathia/retrognathia)
- Ears - Small or virtually absent ears (microtia/anotia)
- Eyes - Upwardly slanting eyelids
- Skeleton[3]
- Short limbs (micromelia)
- Femurs - absent/abnormal
- Fused bones of the spine (sacrum and coccyx)
- Deformation of the foot that may be turned outward or inward ((talipes)-varus/valgus)
- Extra fingers or toes (polydactyly)
- Abnormal vertebral size or shape
- Short stature (dwarfism)
- Others
- Genitourinary abnormalities
- Underdeveloped lungs
- Patent ductus arteriosus
Of note intellectual development typically is normal.
Cause
The cause of this condition is not known. A genetic basis is suspected. More than one case have been reported in three families. It seems to be correlated to maternal diabetes mellitus in about a third of patients. There also have been links to maternal drug exposure, viral infections, radiation, and oligohydramnios.[3]
Diagnosis
The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.[3]
Diagnosis may be made antenatally.[4]
Treatment
There is no known specific treatment for this condition. Management is supportive.[3]
Epidemiology
This is a rare disorder with 92 cases reported up to 2017.[1]
History
This condition was first described in 1975.[5]
References
- 1 2 Luisin M, Chevreau J, Klein C, Naepels P, Demeer B, Mathieu-Dramard M, Jedraszak G, Gondry-Jouet C, Gondry J, Dieux-Coeslier A, Morin G (2017) Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review. Am J Med Genet A
- ↑ Lacarrubba-Flores, Maria Dora Jazmin; Carvalho, Daniel Rocha; Ribeiro, Erlane Marques; Moreno, Carolina Araujo; Esposito, Ana Carolina; Marson, Fernando Augusto Lima; Loureiro, Thereza; Cavalcanti, Denise Pontes (September 2018). "Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair". American Journal of Medical Genetics. Part A. 176 (9): 1917–1928. doi:10.1002/ajmg.a.40425. ISSN 1552-4833. PMID 30070764.
- 1 2 3 4 Ghali, Abdullah; Salazar, Luis; Momtaz, David; Prabhakar, Gautham; Richier, Preston; Dutta, Anil (2021-06-15). "The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient". Case Reports in Orthopedics. 2021: 1–5. doi:10.1155/2021/6684757. PMC 8219463. PMID 34221528.
- ↑ Castro S, Peraza E, Zapata M (2014) Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound 42(1):49-52
- ↑ Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA (1975) Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111