“Facial femoral syndrome”的意思、由来-开放百科全书

词条

Facial femoral syndrome

释义

Signs and symptoms
Cause
Diagnosis
Treatment
Epidemiology
History
References
External links

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| synonyms = Femoral Hyperplasia-Unusual Facies syndrome
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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.

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

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.

Diagnosis

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.

Diagnosis may be made antenatally.^[2]

Treatment

There is no known specific treatment for this condition. Management is supportive.

Epidemiology

This is a rare disorder with 92 cases reported up to 2017.^[3]

History

This condition was first described in 1975.^[4]

References

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

2 : Congenital disorders|Rare syndromes

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