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Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives
Author(s) -
Roosenboom Jasmien,
Hermans Robert,
Lammens Frederik,
Samain Jean Louis,
Devriendt Koen,
Vander Poorten Vincent,
Hellings Peter W.,
Jorissen Mark,
Peeters Hilde,
Claes Peter,
Hens Greet
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40348
Subject(s) - hyposmia , olfactory system , medicine , olfactory bulb , gastroenterology , audiology , disease , central nervous system , psychiatry , covid-19 , infectious disease (medical specialty)
Nonsyndromic orofacial clefting is one of the most frequently occurring congenital conditions. The aim of the study was to investigate the prevalence and nature of reduced olfactory function in patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P) and their unaffected first‐degree 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 = .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 = .001). In hyposmic patients, the OB volumes (left: p = .01 and right: p = .003) and the depth of the left OS ( p = .02) were significantly smaller than in controls. In hyposmic relatives, both OS depths (left: p = .02 and right: p = .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.