title: 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.
authors.affiliation: Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil.
authors.forename: Juliana Forte
authors.initials: JF
authors.lastname: Mazzeu
authors.forename: Eliete
authors.initials: E
authors.lastname: Pardono
authors.forename: Angela M
authors.initials: AM
authors.lastname: Vianna-Morgante
authors.forename: Antônio
authors.initials: A
authors.lastname: Richieri-Costa
authors.forename: Chong
authors.initials: C
authors.lastname: Ae Kim
authors.forename: Décio
authors.initials: D
authors.lastname: Brunoni
authors.forename: Lúcia
authors.initials: L
authors.lastname: Martelli
authors.forename: Carlos Eugênio F
authors.initials: CE
authors.lastname: de Andrade
authors.forename: Guilherme
authors.initials: G
authors.lastname: Colin
authors.forename: Paulo A
authors.initials: PA
authors.lastname: Otto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D013577:Syndrome