Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia

Biswas, Swarnendu; Patra, Shinjan; Chakraborty, Partha Pratim; Barman, Himanshu

doi:10.1136/bcr-2017-221156

Cited by 6 publications

(6 citation statements)

References 20 publications

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“…En el reporte de caso de Aguilar y colaboradores se determina específicamente las complicaciones esqueléticas de la enfermedad, la afectación a nivel de columna vertebral que puede llegar a tener compresión medular, además de resaltar la importancia del diagnóstico precoz y correcto para iniciar un tratamiento adecuado (12). El reporte de caso de Sugata Narayan y colaboradores hace referencia de un determinante importante y es que aunque los pacientes tienen mayor compromiso óseo la terapia de reemplazo no penetra a este nivel por lo tanto los resultados a nivel esquelético pueden ser mínimos o casi nulos y que estos pueden llegar a empeorar con la terapia de reemplazo enzimático, por otra parte otros tipo de terapias como la de células de madre hematopoyéticas puede llegar a ser mejor que las demás alternativas, retardando la progresión de la patología (13).…”

Section: Resultsunclassified

“…Además, la realización de análisis complementarios como radiografías donde se evidenciaron con más claridad las deformidades y características específicas de la enfermedad, laboratorios de diagnóstico que ayudaron a seguir descartando otros posibles diagnósticos. Por último, la realización de exámenes diagnósticos confirmatorios de la enfermedad permite evaluar el tratamiento adecuado y las posibles alternativas terapéuticas (13).…”

Section: Discussionunclassified

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Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Delgadillo¹,

Tatiana²

2019

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Section: Resultsunclassified

Section: Discussionunclassified

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Delgadillo¹,

Tatiana²

2019

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“…This is a marked deformity of the anterior chest wall caused by rib overgrowth -compared to other parts of the body -which restricts the lungs [6]. Because of degenerative changing in body stature, MPS IVA may be misdiagnosed as spondyloepiphyseal dysplasia or other musculoskeletal disorders [22], however a typical characteristic for MPS IVA are hypermobile joints secondary to ligamentus laxity [23]. Individuals with MPS IVA are described as having large heads, in actual fact, the head is large in comparison to body height but normal for the patient's age, because the frontal bone, parietal bone, occipital bone and mandible bone growing for a longer time in comparison with the body.…”

Section: Discussionmentioning

confidence: 99%

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Różdżyńska-Świątkowska

Szklanny

Marucha

et al. 2020

Preprint

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Background: Morquio A syndrome, or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. The aim of this study was to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. Diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with increasing age as a result of relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with ratio of chest depth and chest width was significantly above the norm. The head and neck were relatively elongated in comparison to body height and tucked between narrow shoulders. The head was narrow and elongated, while the nose was short with wide nostrils. Conclusions: Multiple measurements – including age ranges – allowed the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

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“…This is a marked deformity of the anterior chest wall caused by rib overgrowth, compared to other parts of the body, which restricts the lungs [7]. Because of degenerative changes in body stature, MPS IVA may be misdiagnosed as spondyloepiphyseal dysplasia or other musculoskeletal disorders [23], however, a typical characteristic for MPS IVA is the presence of hypermobile joints secondary to ligamentus laxity [24]. Individuals with MPS IVA are described as having large heads, in actual fact, the head is large in comparison to body height but normal for the patient's age, because the frontal bone, parietal bone, occipital bone, and mandible bone grow for a longer time in comparison with the body.…”

Section: Discussionmentioning

confidence: 99%

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

Różdżyńska-Świątkowska

Szklanny

Marucha

et al. 2020

Diagnostics

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Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate timely diagnosis. This study aimed to create a pattern of face and body stature based on anthropometric measurements taken from a cohort of Polish patients with MPS IVA. Methods: Analysis of 11 somatometric and 14 craniofacial features was performed on 20 patients with MPS IVA, aged from 3 months to 26 years. The diagnosis of MPS IVA was confirmed by enzymatic and molecular analysis. Two-tailed t-tests were used to compare mean values for body length and weight at birth between the MPS IVA patients and the general population. To show the degree and direction of deviation z-scores were calculated and then used to construct a model of an average MPS IVA patient. Results: Mean values for body height and weight at birth were greater for boys than for the general population. The observed pattern of head and body shape indicated that dwarfism occurred with age as a result of the relatively short trunk and lower limbs. Skeletal abnormalities included a bell-shaped chest with the ratio of chest depth to chest width being significantly above the norm. The head and neck were relatively elongated, in comparison to body height, and tucked between narrow shoulders. The head had dolichocephalic shape, while the nose was short with wide nostrils. Conclusions: Multiple anthropometric measurements, including age ranges, allowed for the creation of a model that showed the most characteristic features of the MPS IVA phenotype.

show abstract

Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia

Cited by 6 publications

References 20 publications

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Calidad en la descripción de casos en una población con síndrome de Morquio: Una revisión de la literatura

Modelling Morquio A syndrome: an anthropometric study of body characteristics and stature

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

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