Kallmann syndrome with situs inversus: An unreported association
Year: 2025
Type: article
Study design: Case Report
Abstract: ABSTRACT Kallmann syndrome is associated with nonreproductive phenotypical features; its association with situs inversus is not reported in literature. We reported a case of Kallmann syndrome with situs inversus and midline defect in the form of cleft lip with absent olfactory bulb and sulcus. The overlapping features of ciliopathies and Kallmann syndrome suggests it may be the spectrum of ciliopathies. Whole-exome sequencing did not reveal any pathogenic mutation in this case; hence, for detection of intronic and intergenic mutation, whole-genome sequencing is required in such cases.
Source: IJEM Case Reports
Authors: Prashant Gaikwad, Raj Saha
Institution: Nil Ratan Sircar Medical College and Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7115947099