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Facial cleft

Min Jae Kang, Soo Min Ahn, Il Tae Hwang
Cornelia de Lange syndrome (CdLS) is a developmental disorder which is characterized by typical facial features, upper extremity malformations, and growth and cognitive delays. The genes involved in CdLS encode the cohesin complex and its associated proteins; and NIPBL mutations, which account for half of the cases, result in severe CdLS phenotypes. We describe a girl with CdLS, presenting with typical facial dysmorphism, cleft palate, hypertrichosis, upper limb hypertonicity, flexion contracture of elbows, micromelia, bilateral hearing loss, gastroesophageal reflux, and severe pyloric stenosis...
January 2018: Annals of Clinical and Laboratory Science
Marisabel Magnifico, Diana Cassi, Mauro Gandolfini, Andrea Toffoli, Piero A Zecca, Alberto DI Blasio
BACKGROUND: Moebius syndrome is a rare condition characterized by bilateral facial and abducens nerve paralysis. The aim of this study is to evaluate the main orthodontic features and the frequency of associated clinical characteristics in patients with Moebius Syndrome (MS). METHODS: According to Terzis classifications, 58 patients with MS aged 8 months to 46 years old underwent orthodontics and clinical examination. RESULTS: Strabismus, upper and lower limb malformations, lip and palatal cleft were frequently associated with MS...
March 8, 2018: Minerva Stomatologica
Woo Shik Jeong, Jang Yeol Lee, Jong Woo Choi
The surgery-first approach (SFA) is a new paradigm in orthognathic surgery. In our experience over the last 10 years, SFA, particularly for the correction of the class III dentofacial deformity and facial asymmetry, has demonstrated high success rates without any major complications. However, many craniofacial surgeons remain concerned about the skeletal stability of SFA. In the present study, the authors aimed to compare the traditional and SFA with regard to the long-term outcomes of vertical skeletal stability using large-scale data...
March 8, 2018: Journal of Craniofacial Surgery
Daichi Morioka, Nirina Mandrano, Hiroki Fujimoto, Yasushi Koga, Nobuhiro Sato, Yasuyoshi Tosa, Fumio Ohkubo, Shinya Yoshimoto
The usefulness of three-dimensional (3D) stereophotogrammetry for treating cleft lip (CL) has been well documented. However, there are only a few reliable anthropometric analyses in infants with CL because at this age they cannot assume a resting facial position. Since 2014, we have used a handheld 3D imaging system in the operating room to obtain optimal images of infants with CL and palate under general anesthesia. Currently, 168 infants with a unilateral cleft, 50 infants with bilateral clefts, and 47 infants with an isolated cleft palate are being followed up in this way for a maximum of 30 months...
March 8, 2018: Journal of Craniofacial Surgery
Øivind Skare, Rolv T Lie, Øystein A Haaland, Miriam Gjerdevik, Julia Romanowska, Håkon K Gjessing, Astanand Jugessur
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models...
2018: Frontiers in Genetics
Rahime Burcu Nur Yilmaz, Derya Germeç Çakan
AIM: The aim of the present study is to evaluate the effects of nasoalveolar molding (NAM) therapy on nasolabial morphology three dimensionally, and compare the nasolabial linear and surface distance measurements in infants with unilateral cleft lip and palate. METHODS: Facial plaster casts of 42 infants with unilateral cleft lip and palate taken at the onset (pre-NAM) and finishing stage (post-NAM) of NAM were scanned with 3dMDface stereophotogrammetry system (3dMD, Atlanta, GA)...
February 27, 2018: Journal of Craniofacial Surgery
Kihwan Han, Sangho Oh, Jaehoon Choi, Sang Woo Park
BACKGROUND: Alar transfixion sutures are commonly used for vestibular web correction. The purpose of this study was to evaluate the long-term results of the use of alar transfixion sutures in patients with a unilateral cleft lip nasal deformity using photogrammetric analysis. METHODS: The study included 42 patients who were divided into child and adult groups. A total of 4 measurement items were evaluated from a basal view by photogrammetry using standardized clinical photographic techniques preoperatively, immediately postoperatively, 3 months postoperatively, and 6 months postoperatively...
February 27, 2018: Annals of Plastic Surgery
Cory M Resnick, Tessa D Kooiman, Carly E Calabrese, David Zurakowski, Bonnie L Padwa, Maarten J Koudstaal, Judy A Estroff
BACKGROUND: Infants with Robin sequence (RS) may present with airway compromise at delivery. Prenatal diagnosis would improve preparation and postnatal care. The purpose of this study was to devise a predictive algorithm for RS based on fetal magnetic resonance imaging (MRI). METHODS: Retrospective case-control study including fetal MRIs from 2002-2017. Inclusion criteria were: (1) MRI of adequate quality, (2) live-born infant, and (3) postnatal evaluation. Subjects were grouped based on postnatal diagnosis: (1) RS (micrognathia, glossoptosis, airway obstruction), (2) micrognathia without airway obstruction ("micrognathia"), (3) cleft lip and palate ("CLP"), and (4) gestational-age-matched controls...
February 19, 2018: Prenatal Diagnosis
Meeta Bathla, Hiren Doshi, Atul Kansara
Role of high resolution computerized tomography (HRCT) of temporal bone is established in cases of atticoantral chronic suppurative otitis media (CSOM) with intracranial complications. Routine use of HRCT in management of patients of atticoantral CSOM without intracranial complications has been an issue of debate. The aim of this study was to evaluate the routine use of HRCT of temporal bone in such cases. This study was a prospective study done at LG hospital, AMC MET Medical College, Ahmedabad to evaluate and compare the temporal bone findings in HRCT and intraoperative findings in 100 patients with atticoantral CSOM...
March 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
Harish Dharmarajan, Noémie Rouillard-Bazinet, Binoy M Chandy
INTRODUCTION: Pediatric head and neck teratomas account for less than 4% of congenital teratomas. The distinct presentations and outcomes of mature and immature head and neck teratomas have not been well established. OBJECTIVES: To review the management and outcomes of pediatric head and neck teratomas. To distinguish differences between mature and immature tumors with respect to the age at presentation and surgery, tumor size and location, alpha fetoprotein (AFP) levels, airway management, and recurrence...
February 2018: International Journal of Pediatric Otorhinolaryngology
Supakit Peanchitlertkajorn, Ana Mercado, John Daskalogiannakis, Ronald Hathaway, Kathleen Russell, Gunvor Semb, William Shaw, Manish Lamichane, Marilyn Cohen, Ross E Long
OBJECTIVE: To compare nasolabial appearance outcomes of patients with complete unilateral cleft lip and palate (CUCLP) in preadolescence from 4 cleft centers including a center using nasoalveolar molding (NAM) and primary nasal reconstruction. DESIGN: Retrospective cohort study. SETTING: Four cleft centers in North America. PATIENTS: 135 subjects with repaired CUCLP. METHODS: Frontal and profile facial pictures were assessed using the Asher-McDade rating scale...
January 1, 2018: Cleft Palate-craniofacial Journal
David Jun Yan, Vincent Lenoir, Sibylle Chatelain, Salvatore Stefanelli, Minerva Becker
Isolated congenital vomer agenesis is a very rare and poorly understood condition. In the context of dental work-up by cone-beam computed tomography (CBCT), the explored volume of the facial bones occasionally reveals incidental abnormalities. We report the case of a 13-year old Caucasian female who underwent CBCT for the pre-treatment evaluation of primary failure of tooth eruption affecting the permanent right upper and inferior molars. CBCT depicted a large defect of the postero-inferior part of the nasal septum without associated soft tissue abnormality and without cranio-facial malformation or cleft palate...
February 10, 2018: Diagnostics
Marta Losa, Maurizio Risolino, Bingsi Li, James Hart, Laura Quintana, Irina Grishina, Hui Yang, Irene F Choi, Patrick Lewicki, Sameer Khan, Robert Aho, Jennifer Feenstra, C Theresa Vincent, Anthony M C Brown, Elisabetta Ferretti, Trevor Williams, Licia Selleri
Human cleft lip with or without cleft palate (CL/P) is a common craniofacial abnormality caused by impaired fusion of the facial prominences. We have previously reported that in the mouse embryo epithelial apoptosis mediates fusion at the seam where the prominences coalesce. Here, we show that apoptosis alone is not sufficient to remove the epithelial layers. We observed morphological changes in the seam epithelia, intermingling of cells of epithelial descent into the mesenchyme, and molecular signatures of Epithelial-Mesenchymal-Transition (EMT)...
February 5, 2018: Development
Umair Khan, Ddd Study, Eleanor Baker, Jill Clayton-Smith
OBJECTIVE: Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips. PARTICIPANT: We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. RESULTS: This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations...
March 2018: Cleft Palate-craniofacial Journal
Karen W Y Wong Riff, Elena Tsangaris, Timothy E E Goodacre, Christopher R Forrest, Jessica Lawson, Andrea L Pusic, Anne F Klassen
OBJECTIVE: The goal of treatment for individuals with cleft lip and/or palate (CL/P) is to improve physical, psychological, and social health. Outcomes of treatment are rarely measured from the patient's perspective. The aim of the study was to develop a conceptual framework for a patient-reported outcome (PRO) instrument for individuals with clefts (CLEFT-Q) by developing an in-depth understanding of issues that individuals consider to be important. DESIGN: The qualitative methodology of interpretive description was used...
March 2018: Cleft Palate-craniofacial Journal
Delnaz S Patel, Rachel Jacobson, Yao Duan, Linping Zhao, David Morris, Mimis N Cohen
OBJECTIVE: To quantitatively measure the extent of 3D asymmetry of the facial skeleton in patients with unilateral cleft lip and palate (UCLP) using an asymmetry index (AI) approach, and to illustrate the applicability of the index in guiding and measuring treatment outcome. METHOD: Two groups of subjects between the ages of 15 and 20 who had archived CBCT scan were included in this study. Twenty-five patients with complete UCLP were compared with 50 age-matched noncleft subjects...
March 2018: Cleft Palate-craniofacial Journal
Souha Saliba, Baptiste Morel, Marie Gonzales, Marie-Victoire Sénat, Lucie Guilbaud, Jean-Marie Jouannic, Marie Cassart, Catherine Garel, Eléonore Blondiaux
BACKGROUND: Our purpose was to describe and compare the cranial and extracranial abnormalities of Pfeiffer syndrome on prenatal imaging with postnatal or postmortem findings, which may help in prenatal diagnosis of Pfeiffer syndrome (PS). METHODS: Cases of fetuses with a confirmed diagnosis of PS over a 4-year period (2012-2016) were retrospectively reviewed. Prenatal imaging findings, postnatal or postmortem investigations and genetic test results were analyzed...
February 13, 2018: Prenatal Diagnosis
Beata Aleksiūnienė, Egle Preiksaitiene, Aušra Morkūnienė, Laima Ambrozaitytė, Algirdas Utkus
Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23...
February 9, 2018: Cytogenetic and Genome Research
Xia Liu, Satoru Hayano, Haichun Pan, Maiko Inagaki, Jun Ninomiya-Tsuji, Hongchen Sun, Yuji Mishina
BMP signaling plays a critical role in craniofacial development. Augmentation of BMPR1A signaling through neural crest-specific expression of constitutively active Bmpr1a (caBmpr1a) results in craniofacial deformities in mice. To investigate whether deletion of Tak1 may rescue the craniofacial deformities caused by enhanced Smad-dependent signaling through caBMPR1A, we generated embryos to activate transcription of caBmpr1a transgene and ablate Tak1 in neural crest derivatives at the same time. We found that deformities of the double mutant mice showed more severe than those with each single mutation, including median facial cleft and cleft palate...
February 7, 2018: Genesis: the Journal of Genetics and Development
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c...
February 6, 2018: Journal of Human Genetics
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