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https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#1
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28056378/maternal-gaze-to-the-infant-face-effects-of-infant-age-and-facial-configuration-during-mother-infant-engagement-in-the-first-nine-weeks
#2
Leonardo De Pascalis, Natalie Kkeli, Bhismadev Chakrabarti, Louise Dalton, Kyla Vaillancourt, Holly Rayson, Sarah Bicknell, Tim Goodacre, Peter Cooper, Alan Stein, Lynne Murray
BACKGROUND: Adult gaze plays an important role in early infant development, and infants are highly sensitive to its presence and direction. Little is known, however, about how adults look at infants while interacting with them. Using eye-tracking technology, this study investigated maternal gaze during naturalistic interactions, and how it was influenced by infant age, focusing on the transition from the first to the second month when social expressiveness emerges, and by infant facial configuration, focusing on the effect of cleft lip...
January 2, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28050387/alobar-holoprosencephaly-associated-with-meningomyelocoele-and-omphalocoele-an-unusual-coexistence
#3
Tejaswini Priyadarshan Waghmare, Pragati Aditya Sathe, Naina Atul Goel, Bhuvaneshwari Mahendra Kandalkar
Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees. Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar and Middle interhemispheric fusion variant. A male child was born to 28-year-old female at 34 weeks of gestation. The mother on antenatal follow-up was detected to have a fetus with multiple congenital anomalies on Ultrasonography (USG) done at 34weeks of gestation...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28027255/evidence-based-medicine-cleft-palate
#4
Albert S Woo
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient...
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28012331/multidisciplinary-management-of-a-patient-with-van-der-woude-syndrome-a-case-report
#5
Azita Tehranchi, Hossein Behnia, Nasser Nadjmi, Vahid Reza Yassaee, Zeinab Ravesh, Morteza Mina
INTRODUCTION: Van der Woude syndrome (VWS) is the most frequent form of syndromic cleft lip and palate (SCLP) accounting for 2% of all patients with CLP. CASE PRESENTATION: We describe the orthodontic treatment of a girl diagnosed with VWS referred by her family dentist for her cosmetic concerns. DISCUSSION: Comprehensive orthodontic treatment, secondary bone graft, distraction osteogenesis (for a deficient maxilla), secondary palatoplasty and excision of lower lip pits, as well as orthodontic and prosthetic procedures may provide a satisfactory outcome...
December 6, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28011182/dynamic-facial-asymmetry-in-patients-with-repaired-cleft-lip-using-4d-imaging-video-stereophotogrammetry
#6
Rami R Hallac, Jennifer Feng, Alex A Kane, James R Seaward
BACKGROUND: Unilateral cleft lip is a profoundly asymmetrical condition affecting all hard and soft tissue layers from the nose to the upper lip. Although the asymmetry is minimized through cleft lip repair, a degree of asymmetry inevitably persists. Studies investigating asymmetry in patients with cleft lip have used facial measurements, and static 2D and 3D photography. The nose/lip/mouth area, however, is rarely static in our day to day social interactions. METHODS: Non-syndromic patients with cleft lip and palate, and a control group without orofacial clefts underwent 50 frames per second 4D imaging while generating facial expressions including smiling and pouting...
January 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28008390/fordyce-happiness-program-and-happiness-in-mothers-of-children-with-a-cleft-lip-and-palate
#7
Zeinab Hemati, Fatemeh-Sadat Mosavi Asl, Samira Abbasi, Zohre Ghazavi, Davood Kiani
INTRODUCTION: Facial deformities and aesthetic and functional anomalies in children may be a cause of real distress in families. Problems faced by parents in coping with a child's anomaly can be upsetting and lead parents to exhibit over-severe behavior. The present study was conducted in order to study the effect of happiness program on the happiness of the mothers of children with a cleft lip and palate. MATERIALS AND METHODS: In this semi-experimental study, 64 mothers of children with a cleft lip and palate enrolled by convenience random sampling were assigned to an intervention or control group based on a simple random sampling...
November 2016: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28005824/anthropometrically-based-surgical-technique-for-tessier-3-cleft-reconstruction
#8
Aaron L Morgan, Roger Cason, Christian A El Amm
Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005770/a-new-surgical-approach-for-tessier-no-4-facial-cleft-reconstruction-lip-rescue-flap
#9
Ugur Horoz, Tomoaki Kuroki, Nabuhiro Sato, Yasuyoshi Tosa, Hulda Rifat Ozakpinar, Ali Teoman Tellioglu, Shinya Yoshimoto
Craniofacial clefts are rare, severe challenges for surgeons about which there is limited literature. Tessier Number 4 (No. 4) clefts are one of the most complex craniofacial anomalies and present difficulties in surgical treatment. The most-common deformities associated with Tessier No. 4 clefts are displacements of the lower eyelids, medial canthus, and ala and decreased distance between the lower eyelids and lips. In surgery to correct these deformities, the greatest challenges are the design and the placement of the landmarks and incisions...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28003643/kaufman-oculo-cerebro-facial-syndrome-in-a-child-with-small-and-absent-terminal-phalanges-and-absent-nails
#10
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27996297/the-cleft-aesthetic-rating-scale-for-18-year-old-unilateral-cleft-lip-and-palate-patients-a-tool-for-nasolabial-aesthetics-assessment
#11
F J Mulder, D G M Mosmuller, H C W de Vet, C M Mouës, C C Breugem, A B Mink van der Molen, J P W Don Griot
OBJECTIVE:   To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). DESIGN:   Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. SETTING:   Medical Center X...
December 20, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27987519/-autoimmune-disorder-secondary-to-digeorge-syndrome-a-long-term-follow-up-case-report-and-literature-review
#12
Y Xie, J Q Guo, Y Hua, W H Zhao, Q Sun, X T Lu
DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease, facial abnormalities and cleft palate. When the patient went to school, she had learning difficulty and had problems in communication and personal social behavior...
December 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27959587/the-double-tessier-7-cleft-an-unusual-presentation-of-a-transverse-facial-cleft
#13
Janani A Raveendran, Jerry W Chao, Gary F Rogers, Michael J Boyajian
Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.
December 13, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#14
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#15
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27911070/-isolated-bilateral-macrostomia-case-report-and-literature-review
#16
Y D Pacheco, C Lorca-García, B Berenguer, E De Tomás
INTRODUCTION: The macrostomia is a facial abnormality also called transverse facial cleft or Tessier cleft number 7. Macrostomia is a rare condition with an incidence from 1/80,000 to 1/300,000 live births. The left commisure is more commonly affected. Bilateral macrostomia is extremely rare, with only 10 to 20% of all cases of macrostomia, and 50% of bilateral cases are associated with different syndromes. To date just over 20 cases of isolated bilateral macrostomia have been described in the literature...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27896214/a-case-of-severe-mandibular-retrognathism-with-bilateral-condylar-deformities-treated-with-le-fort-i-osteotomy-and-two-advancement-genioplasty-procedures
#17
Masahiro Nakamura, Takeshi Yanagita, Tatsushi Matsumura, Takashi Yamashiro, Seiji Iida, Hiroshi Kamioka
We report a case involving a young female patient with severe mandibular retrognathism accompanied by mandibular condylar deformity that was effectively treated with Le Fort I osteotomy and two genioplasty procedures. At 9 years and 9 months of age, she was diagnosed with Angle Class III malocclusion, a skeletal Class II jaw relationship, an anterior crossbite, congenital absence of some teeth, and a left-sided cleft lip and palate. Although the anterior crossbite and narrow maxillary arch were corrected by interceptive orthodontic treatment, severe mandibular hypogrowth resulted in unexpectedly severe mandibular retrognathism after growth completion...
November 2016: Korean Journal of Orthodontics
https://www.readbyqxmd.com/read/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#18
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27891327/analysis-of-fetal-palate-to-assist-pre-natal-ultrasound
#19
Anjali Shastry, Yogitha Ravindranath, Roopa Ravindranath
INTRODUCTION: Cleft palate is one of the major facial congenital malformation in newborns. Pre-natal detection of this malformation is limited to detection of clefting of hard palate but isolated soft palate clefting still remains challenge for sonologists. As Indian literature is limited present study was attempted to provide dimensions and position of fetal palate by digitized images. AIM: To study dimensions, position and differences in parameters between second and third trimester fetuses...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27876897/mmps-and-timps-expression-in-facial-tissue-of-children-with-cleft-lip-and-palate
#20
Liene Smane-Filipova, Mara Pilmane, Ilze Akota
BACKGROUND AND AIMS: Morphogenesis of the upper lip and palate is a complex process involving highly regulated interactions between epithelial and mesenchymal cells. Genetic evidence in humans and mice indicates the involvement of matrix metalloproteinases (MMPs) and their endogenous tissue inhibitors (TIMPs) in cleft lip palate (CLP) aetiology. This study investigated whether expression of MMP-2, MMP-8, MMP-9, TIMP-2, and TIMP-4, which are essential for the upper lip and palate fusion, is dysregulated in children with CLP...
December 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
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