Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Author Mazzeu, Juliana Forte Google Scholar
Pardono, Eliete Google Scholar
Vianna-Morgante, Angela M. Google Scholar
Richieri-Costa, Antonio Google Scholar
Kim, Chong Ae Google Scholar
Brunoni, Decio Google Scholar
Martelli, Lucia Google Scholar
Andrade, Carlos Euginio F. de Google Scholar
Colin, Guilherme Google Scholar
Otto, Paulo A. Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Hosp Santa Marcelina
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. (c) 2007 Wiley-Liss, Inc.
Keywords Robinow syndrome
genetic heterogeneity
differential diagnosis
Language English
Date 2007-02-15
Published in American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 4, p. 320-325, 2007.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 320-325
Access rights Closed access
Type Article
Web of Science ID WOS:000243950400003

Show full item record


File Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)




My Account