Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium

Abstract

We present an infant with the lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, short limbs and a single atrium. The postnatal radiographic features of the skeleton favoured the diagnosis of Verma-Naumoff type or Saldino-Noonan type short rib-polydactyly syndrome (SRPS). We discuss the criteria for the differential diagnosis of patients with SRPS, which can be difficult because of the overlap of the various phenotypes.

Ellis-Van Creveld syndrome

“…Prenatal abnormalities may be early discovered, after the 18 th gestation week; they include narrow thorax, marked shortening of the long bones, hexadactyly of hands and feet, and cardiac defect [11,12], leading to discussing the diagnosis of short rib-polydactyly syndromes (cf. below).…”

Ellis-van Creveld syndrome: examination at 15 weeks' gestation

“…In type IV (Beemer-Langer), there is usually an omphalocoele. Polydactyly is rare in this type (Qureshi et al, 1993;Jequier and Dunbar, 1973;Horigome et al, 1997).…”

“…A chromosome aberration such as a karyotype 47,XXY in our case has not been reported in EVC until now, and is probably coincidental. The prenatal diagnosis of EVC is made by the ultrasonographic detection of postaxial polydactyly of the hands, shortness of the long bones and a heart defect (Horigome et al, 1997;Mahoney and Hobbins, 1977). The full clinical picture, however, is evident only after birth (Aalam and Rossak, 1973;Böhm et al, 1978;Ferrero et al, 1961;Taylor et al, 1984).…”

Ellis-van Creveld syndrome: A rare clinical entity

“…[910] Increased first-trimester fetal nuchal translucency thickness in association with EVC has been described at 13 th week of gestation. [10]…”