Skeletal dysplasias detectable by DNA analysis

Reardon, William

doi:10.1002/(sici)1097-0223(199612)16:13<1221::aid-pd97>3.0.co;2-e

Cited by 17 publications

(7 citation statements)

References 63 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Particularly in cases with no family history, it is important to be able to make a precise diagnosis in order to provide effective prenatal counseling. At the moment, not all skeletal dysplasias are detectable by DNA analysis 29 and so ultrasound imaging is an essential tool.…”

Section: Discussionmentioning

confidence: 99%

Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Viora

Sciarrone

Bastonero

et al. 2002

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed.

show abstract

Section: Discussionmentioning

confidence: 99%

Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Viora

Sciarrone

Bastonero

et al. 2002

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

show abstract

“…Experience shows that over-reliance on this technique to make specific diagnoses should be avoided; this is particularly true in the third trimester, when scanning is even more difficult. Newer technologies, in particular molecular biology, may, in the future, alter the manner in which we currently diagnose and assess the prognosis in these conditions (Mesoraca et al, 1996;Reardon, 1996).…”

Section: Discussionmentioning

confidence: 99%

Prenatal sonographic diagnosis of skeletal dysplasias—a report of the diagnostic and prognostic accuracy in 35 cases

et al. 1998

View full text Add to dashboard Cite

Sonographic assessment of the skeleton is a routine part of fetal anomaly scanning. We report a series of 35 cases seen during a 7‐year interval in which a skeletal dysplasia was suspected prenatally. In 7 (20 per cent) of the 35 cases, a specific diagnosis could not be made either pre‐ or postnatally. Follow‐up was incomplete in one case. In 32 (91 per cent) of the 35 cases, prenatal sonographic examination correctly predicted the prognosis, although in only 11 (31 per cent) of the 35 cases was the suggested prenatal diagnosis proven to be correct. The difficulty of making an accurate prenatal sonographic diagnosis in fetuses with suspected skeletal dysplasias throughout gestation, especially in the third trimester, and the importance of comprehensive multidisciplinary postnatal assessment in these cases are emphasized. © 1998 John Wiley & Sons, Ltd.

show abstract

“…El cráneo, así como todas las diáfisis y epífisis en general son normales. No se requieren de otras modalidades de imagen complementaria para el diagnóstico (1,6,10). La química sanguínea es normal, incluyendo los niveles de vitamina D (5).…”

Section: Discussionunclassified

“…La expresión de colágeno X durante la osificación endocondral está íntimamente ligada al inicio de la calcificación del cartílago y la remodelación de la matriz extracelular. La ausencia de una red funcional de colágeno X se asocia con el desplazamiento de proteoglicanos, la deposición mineral alterada y la compresión de la placa de crecimiento (6).…”

Section: Discussionunclassified

Displasia metafisaria múltiple. Reporte de caso

Richardson Maturana,

Oyuela-Mancera,

Ovalle-Barranco

2022

Pediatria.

View full text Add to dashboard Cite

Antecedentes: La displasia metafisaria múltiple es una patología poco frecuente dentro del grupo de las displasias óseas, clínicamente similar a la acondroplasia y el raquitismo. Reporte de caso: se presenta el caso de un paciente de cinco años con esta enfermedad, considerando la evaluación clínica, radiológica, endocrinológica y genética realizada para llegar a su diagnóstico. Conclusiones: la sospecha diagnóstica ante un paciente con talla baja y compromiso de las metáfisis de los huesos largos en las imágenes son clave para la correcta identificación de esta patología.

show abstract

Skeletal dysplasias detectable by DNA analysis

Cited by 17 publications

References 63 publications

Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Prenatal sonographic diagnosis of skeletal dysplasias—a report of the diagnostic and prognostic accuracy in 35 cases

Displasia metafisaria múltiple. Reporte de caso

Contact Info

Product

Resources

About