Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

Bartzela, Theodosia; Theuerkauf, Björn; Reichardt, Elisabeth; Spielmann, Malte; Opitz, Ch.

doi:10.1007/s00784-021-03863-2

Cited by 10 publications

(7 citation statements)

References 49 publications

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“…The mean age of the NSCL±P children was ranged between 9-11 years. UCLP (51.3%) was the most common type of the cleft, which was in agreement with other study reported that UCL/P represent 65.7% of individuals with cleft lip/ palate in Berlin [10].…”

Section: Discussionsupporting

confidence: 92%

Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Non-syndromic Cleft Lip with or without Palate Children

B Elgali,

Abd Rahman,

Ahmad

et al. 2023

ADUM

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This study aims to determine the prevalence of dental anomalies and MSX1 gene 799G>T polymorphism and its association with non-syndromic cleft lip with or without palate (NSCL±P) attending Hospital Universiti Sains Malaysia. Clinical and radiological assessments on 37 NSCL±P patients and 80 non-cleft children were done to detect dental anomalies. The buccal cells were collected and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to identify polymorphism. NSCL±P was higher among males (54%) and mostly unilateral cleft lip and palate (51.3%). The prevalence of dental anomalies in morphology in NSCL±P was 18.9% (95% CI: 5.7%, 32.2%) and non-cleft was 6.3% (95% CI: 0.8%, 11.7%). Hypodontia in NSCL±P was 75% (95% CI: 61.2%, 90.2%) and non-cleft was 7.5% (95% CI: 1.6%, 13.4%). There was a significant association between NSCL±P and anomalies in morphology (P= 0.04; OR=3.5)) and number (P< 0.01; OR= 40). There was an absence of rare 799G>T polymorphism in all NSCL±P and non-cleft children indicating that all samples contain common 799G polymorphism. In conclusion, the prevalence of dental anomalies in morphology and number was significantly higher in NSCL±P compared to non-cleft children. However, it was not significantly associated with MSX1 799G>T polymorphism.

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Section: Discussionsupporting

confidence: 92%

Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Non-syndromic Cleft Lip with or without Palate Children

B Elgali,

Abd Rahman,

Ahmad

et al. 2023

ADUM

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“…Sometimes, cleft defects are associated with other syndromes, as shown in a 2021 study [ 26 ] where cleft accompanied by syndromes represented 24 out of 266 cases. However, our results showed that only 2 out of 132 patients had cleft defects associated with syndromes.…”

Section: Discussionmentioning

confidence: 99%

Cleft lip and palate risk factors among otorhinolaryngology: Head and neck surgery patients in two hospitals

Darjazini Nahas,

Hmadieh,

Audeh

et al. 2023

Medicine

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Cleft lip and/or palate is the most prevalent type of head and neck deformity, accounting for 65% of cases. The occurrence of this condition is influenced by both genetic and environmental factors. Cleft defects are classified into 2 types: syndromic cleft lip and palate syndrome and non-syndromic cleft lip and palate syndrome. Cleft lip with or without cleft palate is the most common type of cleft defect, and the surgical repair is the primary treatment option for patients. Our study was a retrospective case–control study that included 132 cases of patients with cleft defects and 132 healthy babies without cleft defects serving as controls. Personal information, including the name, age, and origin of the participants, was collected. Additionally, we collected information on all potential risk factors, including medical history, daily habits, consanguinity between parents, and family history. Information was collected in Excel and analyzed using the Statistical Package for Social Sciences and a Chi-Square test was performed to determine the results and their relationship to cleft lip and palate. Our study identified various risk factors that have a significant association with cleft lip and palate with a P-value <5% in addition to factors that are not considered risk factors. Using relative risk analysis, we were able to rank the top 5 most significant and influential risk factors. The most impactful factor was not taking folic acid during pregnancy. The primary risk factors associated with cleft lip and palate include a family history of the condition, lack of folic acid supplementation, maternal age over 35 years, and high temperatures exceeding 39 °C. Consequently, we recommend that mothers who intend to conceive should take folic acid supplements at a dose of 0.4 to 0.8 mg during the initial trimester of pregnancy. Additionally, we advise careful monitoring of all risk factors, particularly during the first trimester of pregnancy.

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“…In contrast, a Colombian study found CL to be the most common type of cleft [ 30 ]. Furthermore, genetic factors play a crucial role in CL/P occurrence, and a positive family history increases the risk of cleft manifestation [ 8 , 31 – 34 ]. Compared to the international literature, the percentage of patients with a positive family history in the present study sample was rather low.…”

Section: Discussionmentioning

confidence: 99%

Epidemiological and clinical evaluation of patients with a cleft in lower saxony Germany: a mono-center analysis

Philipp,

Anja,

Boris

et al. 2023

Clin Oral Invest

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Objective The aim was to provide epidemiological and clinical data on patients with orofacial clefts in Lower Saxony in Germany. Materials and methods The records of 404 patients with orofacial clefts treated surgically at the University Medical Center Goettingen from 2001 to 2019 were analyzed in this retrospective study. Prevalence of orofacial clefts in general, orofacial clefts as manifestation of a syndrome, sex distribution, and prevalence of different cleft types was evaluated and associated with the need for corrective surgery, family history, pregnancy complications, and comorbidities. Results The prevalence of orofacial clefts for Goettingen in Lower Saxony was 1:890. 231 patients were male and 173 were female. CLP was most common (39.1%) followed by CP (34.7%), CL (14.4%), CLA (9.9%), and facial clefts (2%). The left side was more frequently affected and unilateral cleft forms occurred more often than bilateral ones. Almost 10% of the population displayed syndromic CL/P. 10.9% of all patients had a positive family history regarding CL/P, predominantly from the maternal side. Pregnancy abnormalities were found in 11.4%, most often in the form of preterm birth. Comorbidities, especially of the cardiovascular system, were found in 30.2% of the sample. 2.2% of patients treated according to the University Medical Center Goettingen protocol corrective surgery was performed in form of a velopharyngoplasty or residual hole closure. Conclusions The epidemiological and clinical profile of the study population resembled the expected distributions in Western populations. The large number of syndromic CL/P and associated comorbidities supports the need for specialized cleft centers and interdisciplinary cleft care.

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Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

Cited by 10 publications

References 49 publications

Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Non-syndromic Cleft Lip with or without Palate Children

Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Non-syndromic Cleft Lip with or without Palate Children

Cleft lip and palate risk factors among otorhinolaryngology: Head and neck surgery patients in two hospitals

Epidemiological and clinical evaluation of patients with a cleft in lower saxony Germany: a mono-center analysis

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