Unilateral cleft lip/palate children: The incidence of type 6 septal deformities in their parents

Mladina, Ranko; Skitarelić, Neven; Vuković, Katarina; Šubarić, Marin; Carić, Tomislav; Orihovac, Željko

doi:10.1016/j.jcms.2008.03.003

Cited by 11 publications

(10 citation statements)

References 14 publications

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“…While nasal airflow studies in the unaffected parents of cleft cases have not been carried out to date, several reports have documented morphological aberrations of the nasal cavity in both unaffected parents and siblings within cleft families. 22–24 …”

Section: Discussionmentioning

confidence: 99%

Evidence of Olfactory Deficits as Part of the Phenotypic Spectrum of Nonsyndromic Orofacial Clefting

May

Sanchez

Deleyiannis

et al. 2015

Journal of Craniofacial Surgery

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Improved understanding of the phenotypic spectrum associated with nonsyndromic orofacial clefting (OFC) has the potential to inform efforts to uncover the etiology of this complex trait. Prior studies report that individuals with OFC are characterized by impaired olfactory ability. In this study we test whether olfactory dysfunction extends to the unaffected parents of children with OFC. The University of Pennsylvania Smell Identification Test (UPSIT) was used to measure olfactory ability in a sample of 60 unaffected mothers and fathers with cleft-affected children. The proportion of deficit was compared to reference data obtained from published sex-and age-specific norms on over 2700 individuals. The proportion of deficit was significantly higher in unaffected parents compared with baseline controls (41.7% versus 12.6%; p<0.001). 41.7% of unaffected fathers displayed evidence of deficit compared with 15.1% of male controls (p=0.001), while 41.7% of mothers exhibited deficits compared with 10.4% of female controls (p<0.001). Olfactory deficits are present at a high proportion in the unaffected parents of individuals with OFC. This suggests that the deficits observed in affected cases may not simply be a secondary consequence of surgical repair, and may instead be an informative phenotype reflecting underlying etiology.

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Section: Discussionmentioning

confidence: 99%

Evidence of Olfactory Deficits as Part of the Phenotypic Spectrum of Nonsyndromic Orofacial Clefting

May

Sanchez

Deleyiannis

et al. 2015

Journal of Craniofacial Surgery

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“…Unfortunately, except for the knowledge on this matter based on long-lasting clinical experience, there is no official, published evidence on the absolute heredity of this type at all. On the other hand, the close relationship between type 6 and cleft lip/palate syndrome, REKAS has been clinically proven, thus being an evidence-based matter; this gives some hope that the genetic background for this type of SD will be found in the near future (39,50) . If so, perhaps it will be possible to change the constellation of those genes in the individuals carrying type 6 SD.…”

Section: Reliabilitymentioning

confidence: 99%

“…Clinically, type 6 is found in more than 96% of all children suffering from cleft lip/palate, and in more than 76% of their parents (39). Additionally, in adult subjects carrying type 6 SD without a manifest cleft, one must palpate the hard palate (submucosal cleft?…”

Section: Clinical Implications Of Septal Deformitiesmentioning

confidence: 99%

Clinical Implications of Nasal Septal Deformities

et al. 2015

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tween the types of SD since all of them play some specific role in the nasal and general physiology in man. Keywords: Classification, nasal septum, nose deformities Clinical Implications of Nasal Septal Deformities : 29.10.2014 Accepted: 22.01.2015 • DOI: 10.5152/balkanmedj.2015 Available at www.balkanmedicaljournal.orgCite this article as: Mladina R, Skitarelić N, Poje G, Šubarić M. Clinical implications of nasal septal deformities. Balkan Med J 2015;32:137-46. Copyright 2015 © Trakya University Faculty of MedicineBalkan Med J 2015;32:137-46 Invited Review | 137 has been growing since then, and this has been the standard method at least 40 clinical researches in various countries all over the world . Twelve years after Mladina published his classification and after it had been used for many clinical researches, in 1999, Guyuron published his suggestions, promoting six types which, at first sight, seemed to be more user friendly than Mladina's (43). Guyuron suggested the following types: tilt, antero-posterior C, antero-posterior S, cephalo-caudal S, cephalo-caudal C, and wide spurs. This classification, as for that described by Mladina, includes six types of SD. Moreover, his antero-posterior C corresponds to Mladina type 3, the antero-posterior S looks exactly like Mladina's type 4, the cephalo-caudal C is extremely rare and exists only as an exception after the really serious trauma to the nose (superiorinferior direction of force), and, finally, the cephalo-caudal S is extremely similar to Mladina's well-known type 6. Finally, so-called "wide spurs" are the same as Mladina's type 5. Therefore, overall, both classifications describe almost the same deformities but in "different languages".Four years later, in 2003, Buyukertan classified SD by separating the nasal septum into 10 segments with an intention to better localize the deformity (44).After that, in 2007, the Baumanns published a new classification of septal "deviations" (45). According to their schematic drawings, not real endo-photographs, types 1 and 2 appear to be the same as Mladina's type 5, their type 3 corresponds to Mladina's type 6, types 4 and 5 are very similar to type 7, i.e. a combination of type 5 and type 2 in their type 4, and type 5 and type 3 in their type 5, whereas their type 6 very closely resembles Mladina's type 3. However, the Baumanns' classification does not include "S-shaped" or "reverse S-shaped" septums, i.e. Mladina's type 4 or Guyuron's "anterior-posterior S".Some studies on the incidence of SD in man, based on the Mladina classification and simple anterior rhinoscopy without the decongestion and endoscopy of the nose, showed the incidence of septal deformities to increase slowly from childhood to adulthood, finally becoming very high, reaching close to 90% of the population in the world (29-31).Once it became obvious that SD in man are well defined and differ between themselves, it became very interesting to see how a particular type of septal deformity can influence the owner's nose. We have been using the Mladina ...

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“…4,5 Previous research has shown that the initial surgical repair of the cleft lip/palate does not always result in an acceptable outcome. 6,7 At times, neither the patients nor the surgeons tend to be satisfied with the long-term results. Later in life, some patients report dissatisfaction with their surgical outcomes, especially for the nasolabial region and the profile, and many wish to have additional secondary operations.…”

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confidence: 99%