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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816718/double-composite-tissue-z-plasty-technique-for-anatomical-restoration-of-severe-nasal-deformity-in-secondary-unilateral-cleft-lip
#2
Jiao Wei, Tanja Herrler, Hua Xu, Qingfeng Li, Chuanchang Dai
BACKGROUND: Patients with secondary unilateral cleft lip are regularly affected by serious nasal deformities especially of the alar and nasal floor. A large number of techniques for correction have been published, but symmetrical restoration of severe nasal deformation is difficult to achieve. We propose an innovative approach for anatomical restoration for this entity of nasal deformities to achieve long-term symmetrical appearance and muscular function. METHODS: A total of 68 patients with severe nasal deformity due to secondary unilateral cleft lip underwent reconstructive surgery using a double composite tissue Z-plasty technique for anatomical restoration of cartilage, muscle, and soft tissue layers...
August 14, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28806380/formation-of-the-philtral-column-using-a-dermal-graft-in-secondary-unilateral-cleft-lip
#3
Jeenam Kim, Jongok Park, Ki-Il Uhm, Donghyeok Shin, Hyungon Choi
INTRODUCTION: The philtral column has an important aesthetic significance and is especially important in patients with cleft lip. If the integrity of the philtrum cannot be preserved in patients of unilateral clefts, these patients will have profound abnormalities in their facial musculature. The purpose of this study was to analyze the effects of dermal grafting on the philtral column in patients with a unilateral alveolar cleft. METHODS: The authors retrospectively studied dermal grafts performed in Konkuk University Medical Center between January 2009 and January 2015...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#4
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
August 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28791817/binder-syndrome-clinical-findings-and-surgical-treatment-of-18-patients-at-the-department-of-plastic-surgery-in-polanica-zdr%C3%A3-j
#5
Piotr H Drozdowski, Ireneusz Łątkowski, Mateusz G Zachara, Piotr Wójcicki
BACKGROUND: Binder syndrome (BS) is an uncommon congenital underdevelopment of the maxilla and nasal skeleton. Other clinical features include a hypoplastic or absent anterior nasal spine; a short, flat nose with short columella; an acute nasolabial angle; a convex upper lip and class III malocclusion. OBJECTIVES: The aim of the study was to outline the major characteristics of BS and to present a variety of surgical treatment methods. MATERIAL AND METHODS: The study included 18 patients treated in the authors' department from 1989 to 2013...
May 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28790548/a-giant-heart-tumor-in-neonate-with-clinical-signs-of-pierre-robin-syndrome
#6
Ramush Bejiqi, Ragip Retkoceri, Hana Xhema-Bejiqi, Rinor Bejiqi, Arlinda Maloku
INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#7
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#8
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#9
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28767323/candidate-genes-for-nonsyndromic-cleft-palate-detected-by-exome-sequencing
#10
A K Hoebel, D Drichel, M van de Vorst, A C Böhmer, S Sivalingam, N Ishorst, J Klamt, L Gölz, M Alblas, A Maaser, K Keppler, A M Zink, M J Dixon, J Dixon, A Hemprich, T Kruse, I Graf, A Dunsche, G Schmidt, N Daratsianos, S Nowak, K A Aldhorae, M M Nöthen, M Knapp, H Thiele, C Gilissen, H Reutter, A Hoischen, E Mangold, K U Ludwig
Nonsyndromic cleft palate only (nsCPO) is a facial malformation that has a livebirth prevalence of 1 in 2,500. Research suggests that the etiology of nsCPO is multifactorial, with a clear genetic component. To date, genome-wide association studies have identified only 1 conclusive common variant for nsCPO, that is, a missense variant in the gene grainyhead-like-3 ( GRHL3). Thus, the underlying genetic causes of nsCPO remain largely unknown. The present study aimed at identifying rare variants that might contribute to nsCPO risk, via whole-exome sequencing (WES), in multiply affected Central European nsCPO pedigrees...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28762357/a-novel-approach-for-prosthodontic-management-of-patient-with-cleft-of-palate
#11
Shalini Goyal, Sapna Rani, Salil Pawah, Pankaj Sharma
Nutrition is important in every stage of child development. A child born with cleft lip and palate may experience difficulties while feeding due to the lack of seal of the oral cavity due to incomplete facial and palatal structures. Difficulty in feeding leads to inadequate nutrition and affects the health. Children with cleft lip and palate need certain modifications to thrive and grow. Feeding difficulties should be assessed and intervened as early as possible, as they are an important aspect of multidisciplinary team approach in management and may have an impact on long-term outcome...
July 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28761982/occlusal-chewing-and-tasting-characteristics-associated-with-orofacial-dysfunctions-in-children-with-unilateral-cleft-lip-and-palate-a-case-control-study
#12
Ana Bheatriz Marangoni Montes, Thais Marchini de Oliveira, Maria Beatriz Duarte Gavião, Taís de Souza Barbosa
OBJECTIVE: The objective of this study is to assess the associations between orofacial dysfunctions with malocclusion, masticatory performance, and taste in children with and without unilateral cleft lip and palate (UCLP). MATERIAL AND METHODS: A patient-based, matched, case-control study was conducted involving 108 8- to 10-year-old children divided in UCLP and control groups. Orofacial dysfunctions were evaluated using the Nordic Orofacial Test-Screening (NOT-S)...
July 31, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28749958/the-impact-of-facial-abnormalities-and-their-spatial-position-on-perception-of-cuteness-and-attractiveness-of-infant-faces
#13
Jennifer Lewis, Debi Roberson, Tom Foulsham
Research has demonstrated that how "cute" an infant is perceived to be has consequences for caregiving. Infants with facial abnormalities receive lower ratings of cuteness, but relatively little is known about how different abnormalities and their location affect these aesthetic judgements. The objective of the current study was to compare the impact of different abnormalities on the perception of infant faces, while controlling for infant identity. In two experiments, adult participants gave ratings of cuteness and attractiveness in response to face images that had been edited to introduce common facial abnormalities...
2017: PloS One
https://www.readbyqxmd.com/read/28746286/harvesting-the-buccal-fat-pad-does-not-result-in-aesthetic-deformity-in-cleft-patients-a-retrospective-analysis
#14
Katelyn G Bennett, Todd E Thurston, Christian J Vercler, Steven J Kasten, Steven R Buchman
BACKGROUND: Buccal fat is often used as a pedicled flap in cleft palate repairs to minimize scarring and fortify tenuous closures. Although many surgeons have adopted this technique, others have remained circumspect because of the concern for subsequent facial asymmetry. METHODS: Patients who underwent cleft palate repair using buccal fat pad flaps for closure between 2007 and 2015 were reviewed. Only patients with unilateral buccal fat pad flaps and three-dimensional photography were included...
August 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28746285/a-comparative-analysis-of-recombinant-human-bone-morphogenetic-protein-2-with-a-demineralized-bone-matrix-versus-iliac-crest-bone-graft-for-secondary-alveolar-bone-grafts-in-patients-with-cleft-lip-and-palate-review-of-501-cases
#15
Jeffrey A Hammoudeh, Artur Fahradyan, Daniel J Gould, Fan Liang, Thomas Imahiyerobo, Leo Urbinelli, JoAnna T Nguyen, William Magee, Stephen Yen, Mark M Urata
BACKGROUND: Alveolar cleft reconstruction using iliac crest bone graft is considered standard of care for children with complete cleft lip and palate at the time of mixed dentition. Harvesting bone may result in donor-site morbidity and additional operating time and length of hospitalization. Recombinant human bone morphogenetic protein (rhBMP)-2 with a demineralized bone matrix is an alternative bone source for alveolar cleft reconstruction. The authors investigated the outcomes of rhBMP-2/demineralized bone matrix versus iliac crest bone graft for alveolar cleft reconstruction by reviewing postoperative surgical complications and cleft closure...
August 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28742129/treatment-outcomes-of-pre-surgical-infant-orthopedics-in-patients-with-non-syndromic-cleft-lip-and-or-palate-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#16
Hamid Reza Hosseini, Eleftherios G Kaklamanos, Athanasios E Athanasiou
BACKGROUND: Non-syndromic clefts lip and/or palate (CL/P) defects may have manifold significant and detrimental consequences for the affected individuals and their family environment. Although the use of pre-surgical infant orthopedics (PSIO) was introduced as a means to improve management and treatment outcomes, there still remains a controversy. OBJECTIVE: To investigate the effectiveness of PSIO in patients with non-syndromic CL/P and evaluate the quality of the available evidence...
2017: PloS One
https://www.readbyqxmd.com/read/28738009/morphological-evaluation-of-clefts-of-the-lip-palate-or-both-in-dogs
#17
Santiago Peralta, Nadine Fiani, Kimi H Kan-Rohrer, Frank J M Verstraete
OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images...
August 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28737562/dynamic-cleft-maxillary-orthopedics-and-periosteoplasty-25-patients-25-years
#18
Frederick N Lukash, Lauren B Shikowitz-Behr, Michael Schwartz, Frank Tuminelli
In 1985 this cleft team, dissatisfied with the treatment and results from cleft lip and palate repair, began a longitudinal long-term study using dynamic maxillary orthopedics and periosteoplasty as was originally described by Drs Millard and Latham. All cases were carefully documented through adolescence, including clinical assessments, orthodontic, radiographic, and cephalometric analyses. In 1998, in this journal, we published our data on 35 complete unilateral and 10 complete bilateral cleft patients. At that time facial growth was following normal cephalometric patterns...
July 22, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28736109/electromyographic-analysis-of-superior-orbicularis-oris-muscle-function-in-children-surgically-treated-for-unilateral-complete-cleft-lip-and-palate
#19
Liliana Szyszka-Sommerfeld, Krzysztof Woźniak, Teresa Matthews-Brzozowska, Beata Kawala, Marcin Mikulewicz
PURPOSE: The aim of this study was to assess the electrical activity of the superior orbicularis oris muscle in children surgically treated for unilateral complete cleft lip and palate (UCCLP). MATERIAL AND METHODS: The sample comprised 45 patients 6.38-12.68 years of age with UCCLP and 40 subjects 6.61-11.71 years of age with no clefts. Electromyographical (EMG) recordings were taken with a DAB-Bluetooth Instrument (Zebris Medical GmbH, Germany) in the rest position and during saliva swallowing, lip protrusion and reciprocal compression of the lips, as well as while producing the phonemes /p/, /b/, and /m/ combined with the vowel /a/...
July 5, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28727040/genome-wide-association-studies-and-meta-analysis-reveal-novel-quantitative-trait-loci-and-pleiotropic-loci-for-swine-head-related-traits
#20
H Chen, T Huang, Z Zhang, B Yang, C Jiang, J Wu, Z Zhou, H Zheng, W Xin, M Huang, M Zhang, C Chen, J Ren, H Ai, L Huang
The pig is an important domestic animal that provides a larger amount of meat and serves as a biomedical animal model for human. Head and facial features are closely linked to identity recognition in mammal communication. To uncover the genetic architecture of swine head and facial features, we constructed 5 experimental pig populations and accurately measured 10 traits related to head and facial features, for which genome-wide association studies and meta-analysis were later carried out. As a result, we identified a total of 24 loci harboring 437 SNP on 8 swine chromosomes (SSC) that surpassed suggestively significant levels, of which 17 loci on 6 chromosomes exceeded the 5% genome-wide significance thresholds...
June 2017: Journal of Animal Science
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