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Genetics of cleft lip and cleft palate [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2013
AbstractOrofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to
Mary Marazita, Elizabeth Leslie
exaly   +3 more sources

Orofacial Cleft Frequency Differences Depending on Geographic Origin: Coast vs. Inland

Frontiers in Dental Medicine, 2021
Objective: Cleft lip and/or palate is the most common congenital anomaly in a human face, with a multifactorial and complex etiology. Although many studies have been developed, the role of the environment is still unclear.
Alexandre Rezende Vieira, Alexandre Rezende Vieira, Paulo Germano Cavalcanti Furtado, Valdécio Vasconcelos Lacerda Filho, Jéssica Amorim Teotônio Pereira, Isabelle Silvério Tenório, André Macedo Luna, Vitor Marques Filgueiras, Rosa Helena Wanderley Lacerda, Rosa Helena Wanderley Lacerda   +9 more
doaj   +1 more source

LncRNA-NONMMUT100923.1 regulates mouse embryonic palatal shelf adhesion by sponging miR-200a-3p to modulate medial epithelial cell desmosome junction during palatogenesis

Heliyon, 2023
Cleft palate (CP) is a common neonatal craniofacial defect caused by the adhesion and fusion dysfunction of bilateral embryonic palatal shelf structures. Long non-coding RNA (lncRNA) is involved in CP formation with regulatory mechanism unknown.
Ming Zhang, Jieyan Zhou, Yingwen Ji, Shenyou Shu, Mingjun Zhang, Yan Liang   +5 more
doaj   +1 more source

EVALUATION OF MODIFIED UNILATERAL NASOPLASTY IN PATIENT WITH POST OPERATION OF UNILATERAL LABIOPLASTY AT MALAHAYATI HOSPITAL BANDA ACEH: COHORT STUDY FROM 2017-2019

Jurnal Rekonstruksi dan Estetik, 2020
Highlights: • The study's outcomes reveal favorable results regarding nasal enhancement following rhinoplasty, disparities in surgical choices, and variations in patient gender distribution.
Devyana Enggar Taslima, Muhammad Taufik, Muhammad Jailani, Syamsul Rizal, Mirnasari Amirsyaha   +4 more
doaj   +1 more source

Preliminary experimental study on the prevention of all-trans retinoic acid induced cleft palate in mice by nicotinamide

口腔疾病防治, 2023
Objective To explore the preventive effect of nicotinamide (NAM) on cleft palate induced by all-trans retinoic acid (RA), to provide research evidence for the prevention of cleft palate.
LI Guowei, TANG Shijie
doaj   +1 more source

Transcriptomic analysis of the upper lip and primary palate development in mice

Frontiers in Genetics, 2023
Background: Normal fusion of the upper lip and primary palate is a complex process involving a series of characteristic and orderly regulated cellular events.
Sini Cai, Nuo Si, Yanyang Wang, Ningbei Yin   +3 more
doaj   +1 more source

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study

Frontiers in Genetics, 2022
Craniofacial morphogenesis is highly complex, as is the anatomical region involved. Errors during this process, resulting in orofacial clefts, occur in more than 400 genetic syndromes.
Baiba Lace, Sander Pajusalu, Sander Pajusalu, Sander Pajusalu, Diana Livcane, Ieva Grinfelde, Ieva Grinfelde, Ilze Akota, Ieva Mauliņa, Biruta Barkāne, Janis Stavusis, Inna Inashkina   +11 more
doaj   +1 more source

Three-dimensional reconstruction of systematic histological sections: application to observations on palatal shelf elevation

International Journal of Oral Science, 2021
Normal mammalian secondary palate development undergoes a series of processes, including palatal shelf (PS) growth, elevation, adhesion and fusion, and palatal bone formation. It has been estimated that more than 90% of isolated cleft palate is caused by
Weilong Liu, Xiaoming Wang, Yinuo Wang, Yahong Wang, Jing Zhang, Bing Shi, Chenghao Li   +6 more
doaj   +1 more source

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction

Indian Journal of Plastic Surgery, 2016
Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family.
M. Pasupathy, Vasant Radhakrishnan, Hirji Sorab Adenwalla, Puthucode V. Narayanan   +3 more
doaj   +1 more source

The Use of Eye-tracking Technology in Cleft Lip: A Literature Review

Plastic and Reconstructive Surgery, Global Open, 2023
Background:. Eye-tracking has become an increasingly popular research tool within the field of cleft lip and/or palate (CL+/−P). Despite this, there are no standardized protocols for conducting research.
Alexander T. Plonkowski, R. William F. Breakey, MRCS, PhD, BSc, Jenny C. A. Read, BA, MSc, DPhil, David C. G. Sainsbury, MBBS, MSc, FRCS(Plast)   +3 more
doaj   +1 more source