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At a glance

Osteoarticular disorder characterized by the presence of a typical facial appearance, cleft palate, and underdeveloped bowed femurs.

Synonyms

Bilateral Femoral Dysgenesis; Femoral Dysgenesis-Robin Anomaly; Femoral Hypoplasia-Unusual Facies Syndrome.

Genetic inheritance

Mostly sporadic but autosomal dominant forms with incomplete penetrance have been reported.

Pathophysiology

Unknown.

Diagnosis

Mainly clinical and usually can be suspected antenatally during routine ultrasonogram.

Clinical aspects

Affected patient presents with a facies characterized by upslanted palpebral fissures. Micrognathia associated with a small, pointed chin, short nose, thin upper lip, long philtrum, and cleft palate is found in some cases. The musculoskeletal findings show mainly short, bowed femora and acetabular and sacral anomalies, resulting in a short stature. All other bone lengths are within normal. Some of the other features are hypoplasia of the penis, testes, and labia major and possible renal abnormalities.

Precautions before anesthesia

No special precautions required before administration of anesthesia except for careful evaluation of the airway in the presence of micrognathia. Evaluate renal function.

Anesthetic considerations

The potential for difficult direct laryngoscopy and tracheal intubation cannot be eliminated. Because of musculoskeletal involvement, special attention to intraoperative position must be given.

Pharmacological implications

No specific implications with this condition. Limit the use of prolonged neuromuscular relaxants once the trachea has been secured.

References

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Burn  J, Winter  RM, Baraitser  M,  et al: The femoral hypoplasia-unusual facies syndrome. J Med Genet 21:331, 1984.  [PubMed: 6502648]
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Leal  E, Macias-Gomez  N, Rodriguez  L,  et al: Femoral-facial syndrome with malformations in the central nervous system. Clin Imaging 27:23, 2003.  [PubMed: 12504316]
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Robinow  M, Sonek  J, Buttino  L,  et al: Femoral-facial syndrome—Prenatal diagnosis—Autosomal dominant inheritance. Am J Med Genet 57:397, 1995.  [PubMed: 7677141]

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