Femoral hypoplasia—unusual facies syndrome: A genetic syndrome?

Abstract

A new case of femoral hypoplasia—unusual facies syndrome is presented, bringing the total number of cases in the literature to seven. A differential diagnosis involving an environmental phenocopy is presented and the etiology of the syndrome is discussed.

Femoral-facial syndrome: Report of 2 fetal cases

“…But, the more constant feature is micrognathia (75% of cases). As it is underlined by Maisels and Stilwell [3], almost in all affected infants, the cleft only involves the secondary palate. Unilateral or bilateral cleft lip and palate is observed in only 4 published cases [6], [11], [13], [19].…”

“…The CRS should also be considered in the differential diagnosis. Similarities between FFS and CRS are early pointed in literature [2], [3]. There are many findings which overlap between these congenital disorders, especially the sacral and urogenital tract abnormalities, though facial anomalies are uncommon in CRS and the sacral dysgenesis is less frequently observed in FFS.…”

“…The risk of this disease could be increased by interaction of maternal diabetes with genetic factors. In fact, the characteristic facial features in combination with bilateral femoral hypoplasia, as well as the bilateral and severe symmetrical limb defects noted in many cases argue in favor of a possible genetic predisposition [3]. Genetic involvement is early aroused by Lampert [17] who describes an affected father and daughter and suggests that FFS may be inherited as an autosomal dominant trait.…”

“…It was first described in literature in the early 1960s, but it was later delineated as a distinctive entity by Daentl et al [1]. Subsequently, several case reports of different ethnic groups have been published describing the same disorder [2], [3], [4], [5], [6], [7], [8], [9], [10], [11], [12], [13], [14], [15]. To the best of our knowledge, there have been fewer than 70 reported cases in the literature.…”

The femoral hypoplasia ‐ unusual facies syndrome: A genetic entity?

“…Daentl et al (1975) described four persons with bilateral femoral hypoplasia and an 'unusual' facies (FH-UFS) and recognised two others in the literature. Other reports of the FH-UFS have emanated from Eastman & Escobar (1978), Gleiser et al (1978), Hurst & Johnson (1980) and Lampert (1980).…”