Spine radiograph in dysplasias: A pictorial essay

Gabra, Pavan; Jana, Manisha; Naranje, Priyanka; Gupta, Neerja; Kabra, Madhulika; Gupta, Arun Kumar; Yadav, Richa

doi:10.4103/ijri.ijri_395_20

Cited by 3 publications

(4 citation statements)

References 28 publications

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“…However, pycnodysostosis can be confused with other similar diseases, such as osteopetrosis and cleidocranial dysostosis, because they present some clinical and radiographic similar signs. 7,8 Differentiation from osteopetrosis solely on the basis of plain radiograph is not often possible. 7 Hence, it is important that the physician knows how to make the differential diagnosis in order to indicate the best treatment for each patient.…”

Section: Discussionmentioning

confidence: 99%

“…7,8 Differentiation from osteopetrosis solely on the basis of plain radiograph is not often possible. 7 Hence, it is important that the physician knows how to make the differential diagnosis in order to indicate the best treatment for each patient. Several studies supported that the most common finding in patients with pycnodysostosis is obtuse mandibular angle.…”

Section: Discussionmentioning

confidence: 99%

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Pycnodysostosis: Report of A Rare Case

Sultana,

Ahmed,

Chatterjee

et al. 2023

Mugda Med. Coll. J.

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A 20-year old male patient reported in the outpatient department of Shaheed Suhrawardy Medical College Hospital, Dhaka, Bangladesh, with the complaints of body aches along with pain in the upper and lower limbs for several years. He also gave history of previous hospitalization for the same reason. He also had complaints of failure to thrive in his adolescence. However, he was treated as a case of polyarthritis in his previous admission in the district hospital. On clinical examination, he was found to have short stature, low-weight, peculiar face, prominent forehead, receding jaw and partial dysplasia of the terminal phalanges. He was sent for radiological investigations in the Department of Radiology & Imaging of the same hospital. Plain radiograph of his skull showed brachycephaly with wide sutures and persistent fontanelles with sclerotic changes in the base of skull and orbital rims. The angle of the mandible was obtuse, and the maxilla was found hypoplastic. Lumbar region showed ‘spool-shaped’ vertebral bodies with quite prominent anterior defects; bones had sclerotic changes. Both hands had acro-osteolysis of distal phalanges of thumb, index, middle and ring fingers (both right and left sides) along with irregular distal fragments; bones were sclerotic, too. Those features were consistent with pycnodysostosis. The patient was kept admitted into the hospital and treated accordingly. After obtaining a written informed consent, he was presented as a special case in clinical seminar. Mugda Med Coll J. 2022; 5(2): 110-113

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pycnodysostosis: Report of A Rare Case

Sultana,

Ahmed,

Chatterjee

et al. 2023

Mugda Med. Coll. J.

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“…La fortaleza de este estudio es que es el primero en evaluar la utilidad de las medidas de LS para predecir la EG en gestantes venezolanas con una muestra similar a otras investigaciones previas. Sin embargo, entre las limitaciones está que fue realizado en una sola institución y los resultados pueden ser difíciles primario de osificación está situado en el cuerpo vertebral y otros dos centros están situados a cada lado del arco neural posterior (19,20). La evidencia radiográfica indica que el patrón de osificación del centro vertebral es independiente al de los arcos neurales.…”

Section: Discussionunclassified

Usefulness of fetal sacral length measurement for the prediction of gestational age

Reyna-Villasmil,

Mejía-Montilla,

Torres-Cepeda

et al. 2023

RSOGV

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Objective: To establish the usefulness of fetal sacral length measurement for the prediction of gestational age. Methods: A longitudinal and prospective study was conducted between January 2016 and December 2022 in women with low-risk singleton pregnancies, between 14 and 40 weeks of gestation, who attended prenatal consultation at the Central Hospital “Dr. Urquinaona”, Maracaibo. Biparietal diameter, abdominal circumference, femur length, and fetal sacrum length were measured during pregnancy. Results: For the final analysis, data from 215 healthy women was selected. A total of 3,033 total evaluations were performed, with the lowest number of evaluations at 38 weeks with 104 and the highest number of 139 at 22 weeks. When analyzing the correlation between sacral length and gestational age by date of last menstrual period and the rest of the ultrasound variables used, strong, positive, and significant correlations were found (p < 0.0001). The average difference between the gestational age determined by the date of the last menstrual period and that obtained by the model was +/- 0.3 weeks. The value of the coefficient of determination of the model of gestational age predicted by measurement was 0.975. When combining the four ultrasound parameters studied in the resulting model, it was 0.990. Conclusion: Measurement of fetal sacral length by ultrasonography is useful for predicting gestational age with high precision.

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“…Rib fusion with vertebra segmentation defects is typical for Spondylocostal dysostosis (crab-like chest). Paddle-shaped ribs are observed in mucopolysaccharidosis, wavy ribs are seen in Melnick Needle syndrome (26). Beaded ribs are a feature of Achondrogenesis type 1A and osteogenesis imperfecta type 2A.…”

Section: Radiologic Evaluationmentioning

confidence: 99%

Overview of Skeletal Dysplasias

DAŞAR,

KILIÇ

2024

Türkiye Çocuk Hast Derg

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Skeletal dysplasias are quite a heterogeneous group of disorders, characterized by bone and cartilage abnormalities. Although each of them is individually rare, collectively the birth incidence is approximately 1 in 5000 live births. Due to the clinical heterogeneity, patients with skeletal dysplasias can apply to different departments with many different complaints or even lethal in the perinatal period. The establishment of a precise diagnosis provide proper clinical management of the patient, and a confirmed molecular diagnosis can prevent the recurrence of the disorder in the next generations. However, determining a spesific diagnosis is not always easy, yet a multisystemic, comprehensive, and stepwise approach to the patients with skeletal dysplasias, at least allows clinicians to classify into a specific group. In this review, general approach to patients with skeletal dysplasias, and some of the clinical and radiographic clues helpful in the diagnostic process are briefly summarized.

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Spine radiograph in dysplasias: A pictorial essay

Cited by 3 publications

References 28 publications

Pycnodysostosis: Report of A Rare Case

Pycnodysostosis: Report of A Rare Case

Usefulness of fetal sacral length measurement for the prediction of gestational age

Overview of Skeletal Dysplasias

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