Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives

Abstract

Non-syndromic orofacial clefting is one of the most frequently occuring congenital conditions. The aim of the study was to investigate the prevalence and nature of reduced olfactory function in patients with non-syndromic cleft lip and/or cleft palate (NSCL/P) and their unaffected firstdegree relatives. Olfactory function was tested using the Sniffin' Sticks identification test in patients with NSCL/P, in their unaffected relatives, and in control subjects. MR imaging was performed to measure olfactory bulb (OB) volumes and olfactory sulcus (OS) depths. A reduced olfactory function was seen in significantly more patients with NSCL/P (p=0,002) than in control subjects, regardless of the cleft type. Strikingly, unaffected relatives of patients with NSCL/P also had a higher rate of hyposmia (p=0,001). In hyposmic patients, the OB volumes (left: p=0,01 and right: p=0,003) and the depth of the left OS (p=0,02) were significantly smaller than in controls. In hyposmic relatives, both OS depths (left: p=0,02 and right: p=0,03) were significantly smaller. Patients with NSCL/P and their unaffected relatives have an increased prevalence of reduced olfactory function, associated with changes in the central olfactory structures.

Computational Analysis of Olfactory Airspace in Patients With Unilateral Cleft Lip Nasal Deformity

“…Several explanations are possible for the presence of impaired olfaction in the UCLP population. Roosenboom and colleagues explored the olfactory function and facial endophenotypes of non-affected first-degree relatives of persons with non-syndromic cleft lip and/or palate (NSCL/P) compared to persons without CL/P family history (Roosenboom et al, 2015; Roosenboom et al, 2018). These authors detected a reduced smell capacity in non-affected first-degree relatives of patients with NSCL/P, compared to a control group with negative familial history for NSCL/P.…”