Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound
Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-11-01
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| Series: | Journal of Medical Ultrasound |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/jmu.jmu_20_23 |
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| _version_ | 1846135971341402112 |
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| author | Ranjit Singh Lahel Sangeet Kumar Rajesh Kumar Mishra |
| author_facet | Ranjit Singh Lahel Sangeet Kumar Rajesh Kumar Mishra |
| author_sort | Ranjit Singh Lahel |
| collection | DOAJ |
| description | Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently done. The fetus had shortening of the limbs (micromelia) with long bones (shaped like a telephone receiver), a small conical thorax, a protuberant abdomen, increased skin thickness with a cloverleaf skull, and macrocephaly. The relevant details and review of literature pertinent to the case are hereby discussed. |
| format | Article |
| id | doaj-art-7e98b9aeb25243dba4e47ca7875ab112 |
| institution | Kabale University |
| issn | 0929-6441 2212-1552 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Medical Ultrasound |
| spelling | doaj-art-7e98b9aeb25243dba4e47ca7875ab1122024-12-09T09:44:24ZengWolters Kluwer Medknow PublicationsJournal of Medical Ultrasound0929-64412212-15522024-11-0132434134410.4103/jmu.jmu_20_23Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal UltrasoundRanjit Singh LahelSangeet KumarRajesh Kumar MishraSkeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently done. The fetus had shortening of the limbs (micromelia) with long bones (shaped like a telephone receiver), a small conical thorax, a protuberant abdomen, increased skin thickness with a cloverleaf skull, and macrocephaly. The relevant details and review of literature pertinent to the case are hereby discussed.https://journals.lww.com/10.4103/jmu.jmu_20_23cloverleaf skullmicromeliaprenatalthanatophoric dysplasiaultrasound |
| spellingShingle | Ranjit Singh Lahel Sangeet Kumar Rajesh Kumar Mishra Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound Journal of Medical Ultrasound cloverleaf skull micromelia prenatal thanatophoric dysplasia ultrasound |
| title | Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound |
| title_full | Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound |
| title_fullStr | Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound |
| title_full_unstemmed | Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound |
| title_short | Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound |
| title_sort | thanatophoric dysplasia rare fatal skeletal dysplasia detected on prenatal ultrasound |
| topic | cloverleaf skull micromelia prenatal thanatophoric dysplasia ultrasound |
| url | https://journals.lww.com/10.4103/jmu.jmu_20_23 |
| work_keys_str_mv | AT ranjitsinghlahel thanatophoricdysplasiararefatalskeletaldysplasiadetectedonprenatalultrasound AT sangeetkumar thanatophoricdysplasiararefatalskeletaldysplasiadetectedonprenatalultrasound AT rajeshkumarmishra thanatophoricdysplasiararefatalskeletaldysplasiadetectedonprenatalultrasound |