Diagnostic dilemmas in the short rib–polydactyly syndrome group

Abstract

The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized by markedly short ribs, short limbs, usually polydactyly, and multiple anomalies of major organs. At least four types have been recognized. The radiological findings of 10 cases are presented. Each fetus or stillbirth has some of the radiological features of the four established types of short rib-polydactyly syndrome and raises diagnostic dilemmas in differentiating these entities. The overlapping phenotypes of these fetuses supports the previously suggested hypothesis that the different subtypes of the short rib-polydactyly syndrome group are not single entities, but rather part of a continuous spectrum with variable expressivity.

Diagnosis of short rib polydactyly syndrome type IV (Beemer–Langer syndrome) with cystic hygroma: A case report

“…4 Asphyxiating thoracic dysplasia is characterized by a long severely narrowed thorax, rhizomelic limb shortening, hypoplastic iliac wings, horizontal acetabular roofs, cystic renal disease, and hepatic fibrosis and polydactyly. Radiologically, the vertebrae are normal and the iliac bones are vertically shortened.…”

Short-Rib-Polydactyly Syndrome Presenting with Increased Nuchal Translucency in a High-Risk Family

“…All types are inherited in the autosomal recessive mode, but there is considerable overlap in the phenotype as well as in the radiological features [6] . Elcioglu and Hall [7] studied the radiological fi ndings of 10 cases of SRPS. They concluded that the overlapping radiological characteristics confi rm the hypothesis that there are no clear boundaries between the four subtypes, but they are rather different manifestations of a continuous spectrum, possibly including Mohr syndrome and asphyxiating thoracic dystrophy as well [7] .…”

“…Elcioglu and Hall [7] studied the radiological fi ndings of 10 cases of SRPS. They concluded that the overlapping radiological characteristics confi rm the hypothesis that there are no clear boundaries between the four subtypes, but they are rather different manifestations of a continuous spectrum, possibly including Mohr syndrome and asphyxiating thoracic dystrophy as well [7] . Ho et al [8] reported a family with 2 brothers affected with mild Jeune syndrome and a stillborn with SRPS type III.…”

Mutations in the EVC1 gene are not a common finding in the Ellis‐van Creveld and short rib‐polydactyly type III syndromes

“…EvC is a rare, autosomal recessive skeletal dysplasia in the short rib polydactyly group [Elcioglu and Hall, 2002] characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic teeth and nails. Approximate 60% of the patients with EvC have a congenital cardiac malformation, especially an atrial septation defect.…”