Abstract

Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay. Associated anomalies were: plagiocephaly, broad halluces, nail hypoplasia, cryptorchidism, diastasis recti, and adducted thumbs. Focal seizures in the mouth were also observed. The radiographs revealed advanced bone age and metaphyseal widening of femur and tibia. FCRS has an unknown etiology with only three reported cases so far (since 1977). We report a patient with the main features of FCRS but without the renal component, suggesting that this entity can present a wide clinical spectrum. Based on these findings and on the few previously reported cases with a highly variable phenotype when compared with the original report, we suggest that FCRS should be further clinical delineated according to the following leading anomalies: endocardial fibroelastosis, unusual facial appearance and mental retardation, in order to find more cases that allow a wider clinical description and the identification of the genetic defect(s).

Links

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Authors

Brambila Tapia AJ, Vásquez Velásque AI, González Mercado MG, Macías Chumacera A, Gutierrez-Amavizca BE, Lara Aguilar RA, Pérez Juárez CR, Moreno Andrade A, Figuera LE

Institution

Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.

Source

Genetic counseling (Geneva, Switzerland) 23:1 2012 pg 51-6

MeSH

Abnormalities, Multiple
Cleft Palate
Endocardial Fibroelastosis
Face
Heart Defects, Congenital
Humans
Infant
Kidney
Male

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22611642