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Congenital deformity

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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/28816296/-complete-androgen-insensitivity-syndrome-associated-with-vesical-fistula-a-case-report-and-literature-review
#2
K H Hua, L Yang, X W Zhang, W J Bai, Q Li, T Xu
Androgen insensitivity syndrome (AIS) is a very uncommon genetic disorder that results from the resistance of androgen receptor (AR) to androgen, which influences the formation of the male genitalia and in turn presents with female phenotype. Surgical resection of undesceaded testicle and different kinds of genitoplasty are crucial methods to correct the deformity of reproductive system, as well as hormone replacement therapy, which is an essential therapy for postoperational rehabilitation in AIS patients...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28811814/apert-syndrome-report-of-a-rare-congenital-malformation
#3
Ehsan Rathore, Altaf Hussain Rathore
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28798548/newborn-ear-deformities-early-recognition-and-novel-nonoperative-techniques
#4
REVIEW
Kelly Schultz, Diana Guillen, Renata S Maricevich
Congenital auricular anomalies are common sources of aesthetic concern and psychosocial distress for both children and their parents. Only one-third of these anomalies self-correct, leaving a large need for acceptable corrective methods. Otoplasty is often the standard treatment; however, newer nonsurgical methods, including splinting and molding in the neonatal period, have shown favorable results without the complications of surgical intervention and with the advantage of early intervention. These treatment options have not yet been widely adopted in Western countries due to delayed diagnosis of auricular deformities and confusion regarding treatment indications and technique...
August 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28798546/otologic-and-audiology-concerns-of-microtia-repair
#5
REVIEW
Kausar Ali, Kriti Mohan, Yi-Chun Liu
Microtia is a congenital auricular deformity that commonly presents with associated congenital aural atresia. The most acute concern in these patients is concomitant hearing loss at birth. A team-based approach by plastic surgeons and otologists is necessary to address both the otologic and audiologic concerns of microtia and atresia. Hearing rehabilitation is imperative; yet it should not compromise the aesthetic components of reconstruction and vice versa. Here, the authors propose a framework to evaluate and manage patients with microtia and atresia with the goal of optimizing functional and cosmetic outcomes...
August 2017: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#6
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/28796100/single-stage-reconstruction-of-eyebrow-defect-using-a-v-y-advancement-pedicle-flap-based-on-the-orbicularis-oculi-muscle
#7
Hai-Peng Liu, Ying Shao, Duo Zhang
Eyebrows play an important role in face expression and facial mimics by virtue of muscle contraction. Defects or deformity of the eyebrows result in abnormal facial expressions, and may lead to aesthetic issues for patients. The objective of this study is to report the case of a patient, with a congenital skin pigmented nevus at the right side of the eyebrow treated with direct surgical resection and followed by immediate reconstruction of the eyebrow with a V-Y advancement pedicle flap based on the orbicularis oculi muscle...
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
#8
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/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#9
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
#10
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/28777277/comparison-of-ponte-osteotomies-and-3-column-osteotomies-in-the-treatment-of-congenital-spinal-deformity
#11
Priscella Chan, Lindsay M Andras, Ena Nielsen, Ted Sousa, Elizabeth Joiner, Paul D Choi, Vernon T Tolo, David L Skaggs
BACKGROUND: Congenital spinal deformity (CSD) has traditionally been treated with 3-column osteotomies [hemivertebrectomy (HV) or vertebral column resection (VCR)] to address rigid deformities. Alternatively, multiple Ponte osteotomies (PO) may provide correction while minimizing risk. The purpose of this study was to compare safety and outcomes of patients undergoing surgical treatment for CSD with these 3 procedures. METHODS: Retrospective review of CSD patients treated with posterior spinal fusion between 1996 to 2013...
August 2, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#12
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28770124/omphalocele-and-gastroschisis-in-newborns-over-16-years-of-experience-from-a-single-clinic
#13
Shunusuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
Infants born with potentially life-threatening conditions of omphalocele and gastroschisis may require long-term hospitalization. We aimed to compare the outcomes of these two conditions occurring over a 16-year period (2001-16). It is a retrospective study of 19 newborns undergoing surgery for these two abdominal wall defects (8 patients with omphalocele and 11 cases of gastroschisis). The average birth weights for the newborns with omphaloceles and gastroschisis were 2554.5 g and 2248.6 g respectively. Associated anomalies included trisomy 18, Beckwith-Wiedemann syndrome, congenital heart disease, Meckel's diverticulum, inguinal hernias, renal deformities, limb deformities, cryptorchidism, body stalk anomalies, and closed gastroschisis...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28768790/quantification-of-the-ossification-of-the-lateral-cuneiform-in-the-feet-of-young-children-with-unilateral-congenital-talipes-equinovarus
#14
P J Lang, T Avoian, S N Sangiorgio, M A Nazif, E Ebramzadeh, L E Zionts
AIMS: After the initial correction of congenital talipes equinovarus (CTEV) using the Ponseti method, a subsequent dynamic deformity is often managed by transfer of the tendon of tibialis anterior (TATT) to the lateral cuneiform. Many surgeons believe the lateral cuneiform should be ossified before surgery is undertaken. This study quantifies the ossification process of the lateral cuneiform in children with CTEV between one and three years of age. PATIENTS AND METHODS: The length, width and height of the lateral cuneiform were measured in 43 consecutive patients with unilateral CTEV who had been treated using the Ponseti method...
August 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28755303/-degeneration-of-the-posterior-tibial-tendon-established-and-new-concepts
#15
REVIEW
Markus Walther
BACKGROUND: The most common cause of degeneration of the posterior tibial tendon is a congenital valgus deformity of the calcaneus. Other associated pathologies are forefoot supination, forefoot abduction and shortening of the gastrocnemius muscle. DIAGNOSTICS: Loaded x‑rays of the foot in three planes as well as the hindfoot alignment view enable evaluation of the axis of the foot under static loading conditions. The posterior tibial tendon can be imaged with ultrasound and magnetic resonance imaging (MRI)...
July 28, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/28753691/experimental-study-of-anisotropic-stress-strain-relationships-of-aortic-and-pulmonary-artery-homografts-and-synthetic-vascular-grafts
#16
Yueqian Jia, Yangyang Qiao, I Ricardo Argueta-Morales, Aung Maung, Jack Norfleet, Yuanli Bai, Eduardo Divo, Alain J Kassab, William M DeCampli
Homografts and synthetic grafts are used in surgery for congenital heart disease (CHD). Determining these materials' mechanical properties will aid in understanding tissue behavior when subjected to abnormal CHD hemodynamics. Homograft tissue samples from anterior/posterior aspects, of ascending/descending aorta (AA, DA), innominate artery (IA), left subclavian artery (LScA), left common carotid artery (LCCA), main/left/right pulmonary artery (MPA, LPA, RPA), and synthetic vascular grafts, were obtained in three orientations: circumferential, diagonal (45 deg relative to circumferential direction), and longitudinal...
October 1, 2017: Journal of Biomechanical Engineering
https://www.readbyqxmd.com/read/28751944/complications-in-mandibular-midline-distraction
#17
Jan Pieter de Gijt, Atilla Gül, Eppo B Wolvius, Karel G H van der Wal, Maarten J Koudstaal
Mandibular midline distraction (MMD) is a relatively new surgical technique for correction of transverse discrepancies of the mandible. This study assesses the amount and burden of complications in MMD. A retrospective cohort study was performed on patients who underwent MMD between 2002 and 2014. Patients with congenital deformities or a history of radiation therapy in the area of interest were excluded. Patient records were obtained and individually assessed for any complications. Complications were graded using the Clavien-Dindo classification system (CDS)...
September 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/28746122/anterior-and-posterior-vertebral-column-resection-versus-posterior-only-technique-a-comparison-of-clinical-outcomes-and-complications-in-congenital-kyphoscoliosis
#18
Gokhan Demirkiran, Ozgur Dede, Emre Karadeniz, Deniz Olgun, Mehmet Ayvaz, Muharrem Yazici
STUDY DESIGN: Retrospective cohort. OBJECTIVE: The purpose of this study is to compare the anterior-posterior surgery to posterior-only vertebra resection for congenital kyphoscoliosis in pediatric patients. SUMMARY OF BACKGROUND DATA: Vertebral column resection is a very powerful correction technique mainly used in the treatment of severe and rigid spinal deformities. The technique can be applied with combined anterior and posterior vertebral column resection (APVCR) or posterior-only vertebral column resection (PVCR) approaches...
August 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#19
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28735429/history-of-club-foot-treatment-part-ii-tenotomy-in-the-nineteenth-century
#20
REVIEW
Philippe Hernigou, Nicolas Gravina, Damien Potage, Arnaud Dubory
Clubfoot is one of the most common congenital orthopaedic anomalies and was described by Hippocrates in the year 400 BC. From manipulation in antiquity to splint and plaster in the Renaissance the treatment had improved before tenotomy. Tenotomy was tested during the 19th century and will be explained in this manuscript; the introduction of subcutaneous tenotomy of the Achilles tendon had focused the attention of surgeons on the surgical treatment of clubfeet. While this operation was very successful in the correction of equinus deformities due to poliomyelitis, cerebral palsy, and old injuries, it was not a panacea for the patient with the congenital clubfoot...
July 22, 2017: International Orthopaedics
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