Osteoarticular disorder characterized by the presence
of a typical facial appearance, cleft palate, and underdeveloped bowed
Bilateral Femoral Dysgenesis; Femoral Dysgenesis-Robin
Anomaly; Femoral Hypoplasia-Unusual Facies Syndrome.
Mostly sporadic but autosomal dominant forms
with incomplete penetrance have been reported.
Mainly clinical and usually can be suspected antenatally
during routine ultrasonogram.
Affected patient presents with a facies
characterized by up-slanted 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
No special precautions required
before administration of anesthesia except for careful evaluation of the airway
in the presence of micrognathia. Evaluate renal function.
The potential for difficult direct
laryngoscopy and tracheal intubation cannot be eliminated. Because of
musculoskeletal involvement, special attention to intraoperative position
must be given.
No specific implications with this
condition. Limit use of prolong neuromuscular relaxants once the trachea
has been secured.
Burn J, Winter RM, Baraitser M, et al: The femoral hypoplasia-unusual
facies syndrome. J Med Genet
Leal E, Macias-Gomez N, Rodriguez L, et al: Femoral-facial syndrome with
malformations in the central nervous system. Clin Imaging
Robinow M, Sonek J, Buttino L, et al: Femoral-facial syndrome—Prenatal
diagnosis—Autosomal dominant inheritance. Am J Med Genet