Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Cleft Palate Craniofac J ; 59(1): 132-136, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33576275

RESUMO

Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fissures, hypertelorism, a flat nasal bridge, a long philtrum, micrognathia, and a cleft palate. We performed a Furlow palatoplasty when the patient was 2 years 9 months of age, after respiratory conditions had stabilized. We reviewed the literature of CMPD cases that underwent palatoplasty and discussed the optimal timing and surgical methods.


Assuntos
Displasia Campomélica , Fissura Palatina , Transtornos do Desenvolvimento Sexual , Procedimentos de Cirurgia Plástica , Insuficiência Velofaríngea , Displasia Campomélica/diagnóstico por imagem , Displasia Campomélica/cirurgia , Fissura Palatina/cirurgia , Humanos , Lactente , Palato Mole/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
2.
Childs Nerv Syst ; 33(6): 987-992, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28447148

RESUMO

OBJECTIVES: The objective of the present study is to report a case of campomelic dysplasia illustrating the absence of cervical and thoracic pedicles. This report reiterates the importance of this clinical peculiarity in the setting of spine instrumentation. MATERIALS AND METHODS: A 10-year-old female patient with campomelic dysplasia presented with progressive kyphoscoliosis and signs of neural compromise. Imaging studies confirmed thoracic level stenosis and demonstrated absence of multiple pedicles in cervical and thoracic spine. The patient underwent decompression and instrumentation/fusion for her spinal deformity. RESULTS: The patient was instrumented between C2 and L4 with pedicle screws and sublaminar cables. However, pedicle fixation was not possible for the lower cervical and upper-mid thoracic spine. Also, floating posterior elements precluded the use of laminar fixation in the lower cervical spine. Cervicothoracic lumbosacral orthosis (CTLSO) was used for external immobilization to supplement the tenuous fixation in the cervicothoracic area. The patient improved neurologically with no signs of implant failure at the 2-year follow-up. CONCLUSIONS: Absence of pedicles and floating posterior elements present a challenge during spine surgery in campomelic dysplasia. Surgeons should prepare for alternative fixation methods and external immobilization when planning on spinal instrumentation in affected patients. LEVEL OF EVIDENCE: Level IV Case Report.


Assuntos
Displasia Campomélica/diagnóstico por imagem , Vértebras Cervicais/diagnóstico por imagem , Fusão Vertebral , Vértebras Torácicas/diagnóstico por imagem , Displasia Campomélica/cirurgia , Vértebras Cervicais/anormalidades , Vértebras Cervicais/cirurgia , Criança , Feminino , Seguimentos , Humanos , Fusão Vertebral/métodos , Vértebras Torácicas/anormalidades , Vértebras Torácicas/cirurgia
3.
Medicine (Baltimore) ; 95(50): e5505, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27977582

RESUMO

RATIONALE: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. PATIENTS CONCERNS: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. DIAGNOSES: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). INTERVENTIONS: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. OUTCOMES: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. LESONS: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and


Assuntos
Displasia Campomélica/diagnóstico por imagem , Imageamento Tridimensional , Mucopolissacaridose IV/diagnóstico por imagem , Osteocondrodisplasias/diagnóstico por imagem , Coluna Vertebral/anormalidades , Tomografia Computadorizada por Raios X/métodos , Displasia Campomélica/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Mucopolissacaridose IV/cirurgia , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/cirurgia , Osteocondrodisplasias/cirurgia , Doenças Raras , Estudos de Amostragem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA