An osteosclerotic form of Robinow syndrome

Abstract

Robinow syndrome (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes hypertelorism, a short nose, and a broad mouth. The disorder exists in both a dominant and a more severe recessive form. Here two unrelated cases of sporadic RS are described with the additional finding of axial and appendicular osteosclerosis. These two patients, coupled with three additional patients previously described in the literature, may represent a distinct sub-phenotype of this condition.

Impacted tooth extraction from osteoma in a patient with Robinow syndrome diagnosed from intraoral lesions: A case report and literature review

“…Regarding anomalies in the head and neck region, Bunn et al described an osteosclerotic form of RS. They reported radiographic findings of a sclerotic head and thickened bone [8]. In the present patient, lateral cephalometry and CT of the skull showed osteosclerosis.…”

Molecular genetics and targeted therapy of WNT-related human diseases (Review)

“…2). However, osteosclerotic phenotypes in a subset of patients with Robinow syndrome (133) suggest reciprocal WNT/β-catenin signaling activation in the bone, and Robinow syndrome-like phenotypes in mice with null and hypomorphic Prickle1 alleles (134) suggest the involvement of core PCP components other than DVLs in Robinow syndrome. Signaling mechanisms and Robinow syndrome genes should be further investigated.…”

Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form

“…As is the case with other conditions known to cause cranial osteosclerosis, this can result in certain comorbidities. In particular, bilateral mixed hearing loss had been reported in four subjects with the osteosclerotic form of RS before (Bunn et al, 2014; Eijkenboom et al, 2012; Kelly et al, 1975; White et al, 2015). One of these subjects had evidence of hyperostosis of the skull, appositional bone growth of the middle ear walls with narrowing of the internal auditory canals, and thickened malformed ossicles found on CT scan.…”

“…Based on DEXA scan imaging, we were able to identify a characteristic pattern of structural anomalies of the bones. While the osteosclerotic form of RS had been briefly reported before, it had not been explored in much depth until Bunn et al (Bunn et al, 2014) performed a DEXA scan on two subjects found to have significantly increased BMD. Our findings suggest that this is may be a much more common feature of RS with varying degrees of severity.…”

“…Considerable variation in the skeletal phenotype exist as well, including an osteosclerotic form of RS that has only been reported non‐collectively in nine individuals in the current literature (Bunn et al, 2014, 2015; Eijkenboom, Verbist, Cremers, & Kunst, 2012; Kelly, Benson, Temtamy, Plotnick, & Levin, 1975; Shprintzen, Goldberg, Saenger, & Sidoti, 1982; White et al, 2015). Among these reports, some had isolated cranial osteosclerosis while others were more generalized, and in some cases the authors suggest that osteosclerosis may progress overtime (Bunn et al, 2014; Shprintzen et al, 1982). Secondary comorbidities have been described as well including conductive hearing loss due to appositional bone growth and narrowing of the middle ear (Eijkenboom et al, 2012).…”