Cleft Lip and Palate

Worley, Mitchell L.; Patel, Krishna G.; Kilpatrick, Lauren A.

doi:10.1016/j.clp.2018.07.006

Cited by 154 publications

(142 citation statements)

References 59 publications

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“…However, the remaining 13.3% presented minor issues such as lake of generating proper lip seal, milk regurgitation, postpartum fatigue which is reliable with other studies. Several studies reported the benefits of using syringe in compassion to spoon in increasing the volume intake and speeding the feeding time to reach the normal 29,30,31 . Feeding bottles had proven efficiency in providing infants with the proper quantity they needed for better weight gain.…”

Section: Discussionmentioning

confidence: 99%

Cleft Lip and Palate Nutritional Assessment and Feeding challenges

Attia

2019

Egyptian Dental Journal

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Purpose: The present study aimed to highpoint the feeding challenges of infants with cleft lip and/or palate (CLP) that caregivers and parents came across and analyse the different interventions they perform in the preoperative period. Design and methods: Parents of 100 infants with CLP were asked to complete the questionnaire. The feeding preparations and challenges with alternatives to overcome these difficulties were evaluated. Results: Forty-six percent of the parents that their infants were diagnosed prenatally received an education for feeding. Breastfeeding was not successful 77.9%. Infants affected with isolated cleft palate and cleft lip and palate reported difficulties and more complication than isolated cleft lip patients. Parents stated that 56% of the infants with cleft had stayed in the intensive care units following birth. On the other hand, 40% of the infants were fed by nasogastric or orogastric tube primely. Thirty-five percent of cleft palate patients used palatal obturators. Conclusions: The study highlights the feeding challenges that had been faced by parents, caregivers and health care providers.

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Section: Discussionmentioning

confidence: 99%

Cleft Lip and Palate Nutritional Assessment and Feeding challenges

Attia

2019

Egyptian Dental Journal

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“…Defects at this point can result in a diverse range of phenotypes and clinical entities that are included in the FND spectrum [ 12 ]. The embryological development of the lip starts at the 4th week of gestation [ 13 ]. Two theories regarding the pathogenesis of median facial clefts have been described: the classical theory states that the growth, meeting, and fusion in the midline of the lateral maxillary processes and the unpaired frontal process medially are responsible for normal facial development [ 8 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Pai syndrome: a review

et al. 2020

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Background Pai syndrome is a rare idiopathic developmental condition characterized by midline craniofacial abnormalities. It was originally described as the presence of a median cleft lip, cutaneous polyps of the nasal mucosa and face, and midline lipomas of the central nervous system, mostly at the corpus callosum. However, there is great phenotypical variability and these characteristics are rarely all present at once. Objective The aim of this review was to analyze the available evidence regarding Pai syndrome in order to better delineate this rare condition and its features. Methods We analyzed the PubMed database using the words “Pai syndrome”, “frontonasal dysplasia”, “cleft lip”, “nasal polyp”, “facial polyp”, and “corpus callosum lipoma”, including reviews, case reports and case series. Conclusion There is no consensus regarding the diagnostic criteria of Pai syndrome up to date. It is usually diagnosed at birth, and its incidence is often underestimated. At present, the etiology of Pai syndrome is unknown. Several hypotheses regarding its genetic background have been made; however, there are not enough data yet to elucidate this point. An improved awareness could help in diagnosing the condition and performing the necessary investigations. These patients should have a multidisciplinary follow-up.

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“…CL/P patients usually require long-term and multidisciplinary therapy to solve the abnormality of swallowing, feeding, speaking, malocclusion and mental health. 1 , 2 , 3 CL/P influences about 1/700 births all over the world with a reported prevalence of 1 in 500 births in Asia, higher than other regions. 4 , 5 …”

Section: Introductionmentioning

confidence: 99%

A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

et al. 2020

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Cleft lip and/or palate (CL/P) is a most common craniofacial birth defect which has multifactorial etiology. In our study, we aimed to discover the underlying etiological gene variation in a Chinese family diagnosed as non-syndromic CL/P (NSCL/P). The blood sample of the proband and her parents were detected by whole exome sequencing. The Mendelian inheritance pattern, allele frequency, variation location, function analysis and literature search were applied to filtrate and screen the mutation. Besides, the candidates were confirmed by Sanger sequencing. We meanwhile explored the conservative analysis and protein homology simulation. As a result, a start-lost mutation c.1A > GAtg/Gtg in the Frizzled-6 ( FZD6 ) gene predicting p.Met1 was detected. The variation has not been reported before and was predicted to be harmful. The alteration caused missing of two starting amino acids that are evolutionarily conserved for FZD6 protein. Moreover, the specific structure of the mutant protein obviously changed according to the results of the homologous model. In conclusion, the results suggest c.1A > GAtg/Gtg in the FZD6 (NM_001164616) might be the genetic etiology for non-syndromic CL/P in this pedigree. Furthermore, this finding provided new etiologic information, supplementing the evidence that FZD6 is a strong potential gene for CL/P.

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Cleft Lip and Palate

Cited by 154 publications

References 59 publications

Cleft Lip and Palate Nutritional Assessment and Feeding challenges

Cleft Lip and Palate Nutritional Assessment and Feeding challenges

Pai syndrome: a review

A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

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