Facial femoral syndrome

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Facial femoral syndrome
Other namesFemoral 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]

Contents

Signs and symptoms

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.[ citation needed ] 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. 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
  2. ↑ 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.
  3. 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.
  4. ↑ Castro S, Peraza E, Zapata M (2014) Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound 42(1):49-52
  5. ↑ Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA (1975) Femoral hypoplasia--unusual facies syndrome. J. Pediat. 86: 107-111
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