Short rib‐polydactyly syndrome: more evidence of a continuous spectrum

Abstract

We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.

Short Rib-Polydactyly SyndromeType III: Comparison of Ultrasound, Radiology, and Pathology Findings

“…However, for specific subclassification further ultrasound markers are often not evident or do not fit homogeneously into one subclassification. This has been confirmed by various authors [23,24]. For this reason it was suspected that an overlapping spectrum exists and that a clear classification might not be achieved.…”

Case Report Of Short Rib Polydactyly Syndrome

“…11 It is believed that different subtypes of SRPS are not single entities, but rather part of a continuous spectrum with variable expressivity. 12 The SRPS types which overlap most are types 1 and 3 with similar clinical phenotypes.…”

Diagnostic dilemmas in the short rib–polydactyly syndrome group

“…Four types have been recognized. The different types may be the result of several mutations of different genes or may be the consequence of heterogeneity, different mutant alleles, and secondary intrauterine modification of the phenotype, or all types may be a single genetic disorder with a widely variable clinical expression [Bernstein et al, 1985; Sillence et al, 1987; Martinez‐Frias et al, 1993; Hentze et al, 1998; Inomata et al, 1998; Blanco et al, 1999; Sarafoglou et al, 1999]. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them.…”