The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review

In SWS, accurate ultrasound diagnosis is crucial to provide prognostic information as the lethality does not depend on pulmonary hypoplasia. Examination of the hands looking for camptodactyly is crucial in skeletal dysplasias to distinguish SWS from other bent bone osteochondrodysplasias, namely, campomelic and kyphomelic dysplasias. This prenatal distinction has important implications for prognosis.

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Publication Details

Journal
Journal of Medical Ultrasound
Published
2024-08-29
DOI
https://doi.org/10.4103/jmu.jmu_177_23
Citations
1
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
0.55
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article

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review

H. Mirghani, Muhammad Fathur Rouf Hasan, Fares Chedid, Muzibunnisa Begam
1 citations
Journal of Medical Ultrasound
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
0.55
article

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review

H. Mirghani, Muhammad Fathur Rouf Hasan, Fares Chedid, Muzibunnisa Begam
article en
1 citations

Abstract

In SWS, accurate ultrasound diagnosis is crucial to provide prognostic information as the lethality does not depend on pulmonary hypoplasia. Examination of the hands looking for camptodactyly is crucial in skeletal dysplasias to distinguish SWS from other bent bone osteochondrodysplasias, namely, campomelic and kyphomelic dysplasias. This prenatal distinction has important implications for prognosis.

Journal of Medical UltrasoundVol. 33(2)
University of Leeds (GB), Al Ain Hospital (AE), Mediclinic City Hospital (AE)
Good health and well-being
Openalex Percentile: Top 26%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
0.55
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