Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Abstract

Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The frequencies of clinical signs considered important for the discrimination of the dominant or recessive variants were estimated in a sample consisting of 38 patients personally examined by the authors and of 50 affected subjects from the literature. Using the presence of rib fusions as diagnostic of the recessive variant, and also based on the inheritance pattern in familial cases, we classified 37 patients as having the recessive form and other 51 as having the dominant form. The clinical signs present in more than 75% of patients with either form, and therefore the most important for the characterization of this syndrome were hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Hemivertebrae and scoliosis were present in more than 75% of patients with the recessive form, but in less than 25% of patients with the dominant form. Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form.

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

“…Genital hypoplasia was described in a single patient by Donnai et al (1986), but the mesomelic shortness observed in our patient has not been previously reported in PRDS syndrome. Indeed, short stature, mesomelic limb shortness and genital hypoplasia are clinical signs found in more than 70% of Robinow syndrome patients (Butler and Wadlington, 1987;Mazzeu et al, 2007). However, the combination of symptoms in our patient is not typical of Robinow syndrome patients, particularly regarding craniofacial features.…”

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

“…Reporting on 88 RS patients, Mazzeu et al found dental malocclusion in 93% of RRS cases and 49.4% of DRS cases. Cleft lip/plate was observed in 13.5% of RRS cases and 34.7% of DRS cases and supernumerary teeth were observed in 10.3% of RRS cases and 18.3% of DRS cases [10]. In addition to these items, Beiraghi et al, describing 12 RS patients, found abnormal uvula in 67% of RRS cases and 89% of DRS cases, and dental crowding in 33% of RRS cases and 78% of DRS cases [11].…”

Orofacial Manifestations of Robinow’s Syndrome: 5 years Follow-up Case

“…The mutated gene responsible for RRS has been identified as ROR2 at 9q22, a member of the receptor tyrosine kinase-like gene family that encodes an orphan membrane-bound tyrosine kinase involved in cell growth and differentiation [6][7][8]. Mutations in WNT5A, locus 3p 14.3 are responsible for the DRS which is characterized by more prominent oral manifestations [4].…”