当前位置： SCI文献检索 > CLEFT PALATE-CRANIOFACIAL JOURNAL期刊下所有文献 > A case of mitochondrial myopathy and cleft palate.

A case of mitochondrial myopathy and cleft palate.

Abstract：

OBJECTIVE:To present a child born with both mitochondrial myopathy and cleft palate, outlining medical complications of this dual diagnosis-the first reported case in English literature. METHODS:A preterm Caucasian boy presented to the cleft palate clinic at birth for evaluation of a secondary cleft palate. Multiple anomalies were also identified, including rib fusions, ventricular septal dyskinesis, and mild hypotonia. Initial chromosome studies were unremarkable. RESULTS:After a multidisciplinary preoperative clearance at 11 months old, the infant underwent palatoplasty and muscle biopsy for evaluation of hypotonia. Upon extubation, he became apneic and unresponsive to anticholinesterase reversals. He was reintubated. The next morning, he was extubated uneventfully and was discharged home on postoperative day 2 (POD2). On POD7, he returned with signs of bronchitis, thereby prompting immediate reevaluation and treatment by his primary pediatrician. On POD13, he presented to an outlying emergency department with cyanosis and poor respiratory drive. Before intubation, he received a depolarizing muscle relaxation; cardiac arrest ensued and resuscitation was unsuccessful. Pathology from the muscle biopsy and postmortem examination ultimately supported mitochondrial myopathy with dilated cardiomyopathy. CONCLUSION:Mitochondrial myopathies are rare disorders suspected in patients demonstrating developmental delays, hypotonia, cardiomyopathy, conduction system defects, or genetic mutations. In these patients, postoperative complications can be lethal, especially when compounded (e.g., anesthetic drug reactions, respiratory compromise, surgical stress, and postoperative infections). General discussion and specific recommendations are provided.

journal_name

Cleft Palate Craniofac J

journal_title

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

authors

Franklin JA,Lalikos JF,Wooden WA

doi

10.1597/03-040.1

keywords:

subject

Has Abstract

pub_date

2005-05-01 00:00:00

pages

327-30

issue

3

eissn

1055-6656

issn

1545-1569

pii

03-040

journal_volume

42

pub_type

杂志文章

相关文献

CLEFT PALATE-CRANIOFACIAL JOURNAL文献大全
  • Syndrome delineation involving orofacial clefting.

    abstract：:A table comparing the number of syndromes with orofacial clefting for the years 1971, 1978, and 1990 is presented and discussed. Over 300 such disorders are known today. A second table is presented showing the frequency of associated anomalies with orofacial clefting. The wide range of frequencies found in various stu...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,评审

    doi：10.1597/1545-1569_1991_028_0119_sdioc_2.3.co_2

    authors： Cohen MM Jr,Bankier A

    更新日期：1991-01-01 00:00:00

  • Le Fort III Distraction With Internal vs External Distractors: A Cephalometric Analysis.

    abstract：OBJECTIVE:This study compares the change in midface position following Le Fort III advancement using either rigid external distraction (group 1) or internal distraction (group 2). We hypothesized that, with reference to right-facing cephalometry, internal distraction would result in increased clockwise rotation and inf...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665617754460

    authors： Robertson KJ,Mendez BM,Bruce WJ,McDonnell BD,Chiodo MV,Patel PA

    更新日期：2018-05-01 00:00:00

  • Acute Liver Failure and Hepatic Encephalopathy After Cleft Palate Repair.

    abstract：:Paracetamol is the most commonly used analgesic after cleft palate repair. It has rarely caused acute hepatic failure at therapeutic or supratherapeutic doses. Only one case of therapeutic paracetamol toxicity after cleft palate repair had been reported previously. Here, we present a similar patient who developed acut...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/14-319

    authors： Kocaaslan ND,Tuncer FB,Tutar E,Celebiler O

    更新日期：2015-09-01 00:00:00

  • An investigation of the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts.

    abstract：OBJECTIVE:This research studied the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts. DESIGN:The study was cross-sectional. SETTING:The study was conducted in a university hospital for children. PARTICIPANTS:The sample consisted of 148 childr...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_2003_040_0297_aiotrb_2.0.co_2

    authors： Swanenburg de Veye HF,Beemer FA,Mellenbergh GJ,Wolters WH,Heineman-de Boer JA

    更新日期：2003-05-01 00:00:00

  • Effect of premature sagittal suture closure on craniofacial morphology in a prehistoric male Hopi.

    abstract：:Scaphocephaly is caused by premature sagittal suture closure. It restricts medial-lateral growth of the cranial vault which appears longer and narrower than normal. We examined how this natural malformation affected morphology of the cranial base and face. A prehistoric adult male Hopi with scaphocephaly was compared ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 历史文章,杂志文章

    doi：10.1597/1545-1569_1994_031_0385_eopssc_2.3.co_2

    authors： Kohn LA,Vannier MW,Marsh JL,Cheverud JM

    更新日期：1994-09-01 00:00:00

  • Functional abnormalities in the neural circuitry of reading in men with nonsyndromic clefts of the lip or palate.

    abstract：OBJECTIVE:The current study was designed to evaluate the neurobiology of reading in a group of men with nonsyndromic clefts of the lip or palate (NSCLP) compared with healthy controls by positron emission tomography. DESIGN:SUBJECTS included eight men with NSCLP compared with six healthy control men. By using radioact...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/05-043

    authors： Goldsberry G,O'Leary D,Hichwa R,Nopoulos P

    更新日期：2006-11-01 00:00:00

  • Early maxillary orthopedics in a child with an oblique facial cleft.

    abstract：OBJECTIVE:Oblique facial clefts are extremely rare. In view of their variability, surgical treatment cannot be standardized. To date, early maxillary orthopedics in the treatment of oblique facial clefts have not been reported. The case described here presents a newborn child with a Tessier 3 cleft. Because of the enor...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1997_034_0147_emoiac_2.3.co_2

    authors： Stellzig A,Basdra EK,Mühling J,Komposch G

    更新日期：1997-03-01 00:00:00

  • Premaxillary Distraction Osteogenesis Using an Intraoral Appliance for Unilateral Cleft Lip and Palate: Case Report.

    abstract：OBJECTIVE:Premaxillary distraction osteogenesis was introduced using intraoral devices to correct maxillary hypoplasia and lengthen the alveolar bone horizontally in a patient with unilateral cleft lip and palate. METHODS:For premaxillary distraction osteogenesis, Le Fort I osteotomy was performed. Vertical osteotomy ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/14-105

    authors： Terbish M,Choi HY,Park YC,Yi CK,Cha JY

    更新日期：2015-07-01 00:00:00

  • No evidence for linkage and association between 4q microsatellite markers and nonsyndromic cleft lip and palate in chilean case-parents trios.

    abstract：OBJECTIVE:Nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Linkage and association studies have suggested that one or more clefting loci may be located on chromosome 4q. The goal of this study was to evaluate the possible linkage and association due to linkage disequilibrium bet...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/03-160.1

    authors： Blanco R,Suazo J,Santos JL,Carreño H,Palomino H,Jara L

    更新日期：2005-05-01 00:00:00

  • Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.

    abstract：:Frontonasal malformation (FNM) is a developmental field defect representing abnormal morphogenesis of the frontonasal eminence. The oculoauriculovertebral spectrum (OAVS) has been used to describe a broader range of first and second branchial-arch defects including hemifacial microsomia and Goldenhar's syndrome. A com...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,评审

    doi：10.1597/1545-1569_1996_033_0519_fmatos_2.3.co_2

    authors： Casey HD,Braddock SR,Haskins RC,Carey JC,Morales L Jr

    更新日期：1996-11-01 00:00:00

  • The management of otitis media with early routine insertion of grommets in children with cleft palate -- a systematic review.

    abstract：OBJECTIVE:To determine whether early routine grommet insertion in children with cleft palate has a beneficial effect on hearing and speech and language development compared with conservative management. DESIGN:Systematic review of randomized controlled trials, controlled clinical trials, case series, and prospective a...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,评审

    doi：10.1597/07-219.1

    authors： Ponduri S,Bradley R,Ellis PE,Brookes ST,Sandy JR,Ness AR

    更新日期：2009-01-01 00:00:00

  • National Estimates of and Risk Factors for Inpatient Revision Surgeries for Orofacial Clefts.

    abstract：OBJECTIVE:To provide national estimates of the number and cost of primary and revision cleft lip and palate surgeries in the U.S. and to determine patient and hospital characteristics associated with disproportionate use of revision surgery. DESIGN:Retrospective cross-sectional study using data obtained from the 2003,...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/15-206

    authors： Thompson JA,Heaton PC,Kelton CM,Sitzman TJ

    更新日期：2017-01-01 00:00:00

  • Hypernasality and velopharyngeal impairment.

    abstract：:Although the primary cause of hypernasality is impaired velopharyngeal (VP) function, a variety of other factors influence the outcome perceived by the listener. The purpose of the current study was to assess the relationship between oral-nasal resonance balance and (1) velopharyngeal orifice area; (2) nasal airflow r...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1994_031_0257_havi_2.3.co_2

    authors： Warren DW,Dalston RM,Mayo R

    更新日期：1994-07-01 00:00:00

  • Incidence of oronasal fistulae and velopharyngeal insufficiency after cleft palate repair: an audit of 211 children born between 1990 and 2004.

    abstract：OBJECTIVE:We present an audit of primary cleft palate surgery at our unit, including rates of oronasal fistula development, speech outcomes, and rates of velopharyngeal insufficiency requiring secondary surgery. DESIGN:A retrospective study of patients with all cleft palate types, born between January 1990 and Decembe...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/06-205.1

    authors： Phua YS,de Chalain T

    更新日期：2008-03-01 00:00:00

  • Experimental Tooth Movement Into New Bone Area Regenerated by Use of Bone Marrow-Derived Mesenchymal Stem Cells.

    abstract：OBJECTIVE:The aim of this study was to examine experimental tooth movement into regenerated bone in alveolar cleft with mesenchymal stem cells and a granulated carbonated hydroxyapatite scaffold. DESIGN:An artificial bone defect was created bilaterally in upper incisor regions of beagle dogs to simulate alveolar cleft...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/12-232

    authors： Tanimoto K,Sumi K,Yoshioka M,Oki N,Tanne Y,Awada T,Kato Y,Sugiyama M,Tanne K

    更新日期：2015-07-01 00:00:00

  • "It Doesn't All Just Stop at 18": Psychological Adjustment and Support Needs of Adults Born With Cleft Lip and/or Palate.

    abstract：BACKGROUND:Cleft in the lip and/or the palate (CL/P) is considered to be a lifelong condition, yet relatively little is known about the long-term outcomes for patients. Existing literature is largely outdated and conflicted, with an almost exclusive focus on medical aspects and deficits. OBJECTIVE:To explore the psych...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/14-178

    authors： Stock NM,Feragen KB,Rumsey N

    更新日期：2015-09-01 00:00:00

  • Mesiodistal Angulation of Each Whole Tooth in Patients With Nonsyndromic Unilateral Cleft Lip and Palate: Is it Symmetrical?

    abstract：OBJECTIVE:To assess the symmetry of the mesiodistal angulations of maxillary and mandibular teeth in patients with unilateral cleft lip and palate (UCLP) and compare with the class I control group without cleft lip and palate (CLP). DESIGN:A retrospective study. SETTING:University department. PATIENTS, PARTICIPANTS:...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665620967534

    authors： Sezici YL,Dindaroğlu F,Işık A,Doğan S

    更新日期：2020-10-28 00:00:00

  • Inclusion mucous cysts of the nose: a late complication after septorhinoplasty in two cleft lip patients.

    abstract：BACKGROUND:Mucous cysts of the nose are a rare complication of rhinoplasty. They may develop as a result of implantation or herniation of mucosa. The entrapped epithelium may proliferate, forming a subcutaneous cyst. PATIENTS AND METHODS:Two patients with unilateral cleft lip nose deformity had previously undergone co...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/08-236

    authors： Pausch NC,Bertolini J,Hemprich A,Hierl T

    更新日期：2010-11-01 00:00:00

  • Maxillary Protraction Therapy in Class III Patients With and Without Cleft Lip and Palate: An Interim Report of a Prospective Comparative Study.

    abstract：OBJECTIVE:To investigate and compare the effects of maxillary protraction therapy on Class III patients with unilateral cleft lip and palate (UCLP) and Class III patients with noncleft. DESIGN:Prospective controlled clinical trial. PATIENTS:Twenty-six Class III patients with UCLP (mean age: 10.32 ± 1.29 years) and 26...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665620954058

    authors： Lin Y,Fu Z,Guo R,Ma L,Li W

    更新日期：2020-09-28 00:00:00

  • Rigid external distraction osteogenesis for a patient with maxillary hypoplasia and oligodontia.

    abstract：OBJECTIVE:In this report, the orthodontic treatment combined with rigid external distraction osteogenesis in a 5.5-year-old girl with midfacial hypoplasia and oligodontia is described. PATIENT:The child presented with a reduced maxilla, protruding lower lip, skeletal Class III jaw relationship with a low mandibular pl...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_2003_040_0207_redofa_2.0.co_2

    authors： Kitai N,Kawasaki K,Yasuda Y,Kogo M,Murakami S,Kreiborg S,Takada K

    更新日期：2003-03-01 00:00:00

  • Differential growth among components of the palate in rhesus monkeys (Macaca mulatta).

    abstract：:To understand the etiology of maxillary hypoplasia better, which is common in individuals with cleft palate and other craniofacial anomalies, the relative growth and contribution of the maxillary and palatine segments to enlargement of the hard palate was examined in rhesus monkeys. The purpose of the study was to ide...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1993_030_0302_dgacot_2.3.co_2

    authors： King AH,Schneiderman ED

    更新日期：1993-05-01 00:00:00

  • Long-term, longitudinal follow-up of individuals with unilateral cleft lip and palate after the Gothenburg primary early veloplasty and delayed hard palate closure protocol: speech outcome.

    abstract：OBJECTIVE:To investigate long-term, longitudinal speech outcome in patients born with unilateral cleft lip and palate treated according to a two-stage primary palatal protocol with early veloplasty and delayed hard palate closure. DESIGN:Retrospective, longitudinal cohort study. Setting : A university hospital in west...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/11-085

    authors： Lohmander A,Friede H,Lilja J

    更新日期：2012-11-01 00:00:00

  • Closure of the soft palate for persistent otorrhea after placement of pressure equalization tubes in cleft palate infants.

    abstract：:Four case reports of infants with cleft palate and intractable otorrhea following the placement of pressure equalization tubes are presented. In one patient, liquids taken orally were noted to reflux through her ears. Otorrhea was refractory to medical management in all cases and was controlled only after closure of t...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569(1991)028<0325:UOTBII>2.3.CO;2

    authors： Braganza RA,Kearns DB,Burton DM,Seid AB,Pransky SM

    更新日期：1991-07-01 00:00:00

  • Evaluating Autologous Lipofilling for Parry-Romberg Syndrome-Associated Defects: A Systematic Literature Review and Case Report.

    abstract：BACKGROUND:Parry-Romberg syndrome (PRS) is a rare craniofacial disease that causes progressive hemifacial atrophy of the soft tissue before spontaneously entering remission. Autologous fat grafting may provide a less invasive alternative, producing aesthetically pleasing results while avoiding the need for traditional ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,评审

    doi：10.1597/14-232

    authors： Rodby KA,Kaptein YE,Roring J,Jacobs RJ,Kang V,Quinn KP,Antony AK

    更新日期：2016-05-01 00:00:00

  • Comparative salivary proteomics of cleft palate patients.

    abstract：OBJECTIVES:To investigate salivary proteins with proteomic technologies to evaluate protein composition differences between samples with cleft lip and palate and healthy controls. DESIGN, PARTICIPANTS:Matrix-assisted laser desorption/ionization tandem time-of-flight (MALDI TOF/TOF) mass spectrometry was used as a high...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/10-135

    authors： Szabo GT,Tihanyi R,Csulak F,Jambor E,Bona A,Szabo G,Mark L

    更新日期：2012-09-01 00:00:00

  • Costochondral grafts replacing the mandibular condyle.

    abstract：OBJECTIVE:The purpose of this study was to determine the success rate of costochondral bone grafts used to replace absent or nonfunctioning temporomandibular joints and the subsequent growth of these grafts when placed in young children. DESIGN:This is a retrospective study of all cases with adequate follow-up records...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1999_036_0334_cgrtmc_2.3.co_2

    authors： Ross RB

    更新日期：1999-07-01 00:00:00

  • Measuring Symmetry in Children With Cleft Lip. Part 3: Quantifying Nasal Symmetry and Nasal Normalcy Before and After Unilateral Cleft Lip Repair.

    abstract：OBJECTIVE:The purpose of this project was to develop objective computer-based methods to measure nasal asymmetry and abnormality in children undergoing treatment of unilateral cleft lip (UCL) and to determine the correlation of these measures to clinical expectations. PARTICIPANTS:Thirty infants with UCL undergoing cl...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/16-035

    authors： Liang S,Shapiro L,Tse R

    更新日期：2017-09-01 00:00:00

  • New neonatal classification of unilateral cleft lip and palate part 2: to predict permanent lateral incisor agenesis and maxillary growth.

    abstract：:Objectives : To bring a neonatal classification system of unilateral cleft lip and palate and to correlate this classification with the distribution of the permanent lateral incisor and maxillary growth. Design : Retrospective with longitudinal follow-up. Setting : Tertiary. Patients : A total of 112 individuals with ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/12-114

    authors： Doucet JC,Delestan C,Montoya P,Matei L,Bigorre M,Herlin C,Baümler C,Daures JP,Captier G

    更新日期：2014-09-01 00:00:00

  • CPCJ 50th Anniversary Editorial Board Commentary: Otolaryngology--then and now.

    abstract：:This review continues the series of articles by the Editorial Board reflecting upon the first volume of the journal published in 1964 and celebrating the 50th anniversary of The Cleft Palate-Craniofacial Journal. This editorial examines the contributions of Otolaryngology-Head and Neck Surgery to interdisciplinary cle...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 社论,历史文章

    doi：10.1597/14-134

    authors： Conley SF

    更新日期：2014-07-01 00:00:00

  • Microbial Profile and Dental Caries in Cleft Lip and Palate Babies Between 0 and 3 Years Old.

    abstract：OBJECTIVE:The aim of this study was to examine the microbiological changes in newborn babies with cleft lip palate from birth up to age 3 and to correlate them with their caries levels and mothers' microbiological data and to compare with normal infants. BASIC RESEARCH DESIGN:Prospective. SETTINGS:Marmara University,...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1177/1055665618776428

    authors： Durhan MA,Topcuoglu N,Kulekci G,Ozgentas E,Tanboga I

    更新日期：2019-03-01 00:00:00