Thanatophoric Dysplasia: A Case Report
Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided...
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| Language: | English |
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JCDR Research and Publications Private Limited
2015-11-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/6702/13201_CE[Ra]_F(P)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdf |
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| author | Manisha Sharma Jyoti Rekha Jain Devendra |
| author_facet | Manisha Sharma Jyoti Rekha Jain Devendra |
| author_sort | Manisha Sharma |
| collection | DOAJ |
| description | Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3
gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and
macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes.
They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight
forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly,
micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital.
The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and
skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case
of thanatophoric dysplasia with a short review of literature. |
| first_indexed | 2024-12-19T02:21:33Z |
| format | Article |
| id | doaj.art-1c9ce68103e24f969a82ca0981397499 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-19T02:21:33Z |
| publishDate | 2015-11-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-1c9ce68103e24f969a82ca09813974992022-12-21T20:40:08ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-11-01911QD01QD0310.7860/JCDR/2015/13201.6702Thanatophoric Dysplasia: A Case ReportManisha Sharma0Jyoti1Rekha Jain2Devendra3Senior Specialist, Department of Obstetrics and Gynaecology, Hindu Rao Hospital and NDMC Medical College, NDMC, Delhi, India. Student, Department of Obstetrics and Gynaecology, Hindu Rao Hospital and NDMC Medical College, NDMC, Delhi, India.CMO NFSG, Department of Obstetrics and Gynaecology, Hindu Rao Hospital and NDMC Medical College, NDMC, Delhi, India.Medical Officer, Department of Radiology, Hindu Rao Hospital and NDMC Medical College, NDMC, Delhi, India.Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature.https://jcdr.net/articles/PDF/6702/13201_CE[Ra]_F(P)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdfcongenitalmicromeliaplatyspondylyskeletal dysplasia |
| spellingShingle | Manisha Sharma Jyoti Rekha Jain Devendra Thanatophoric Dysplasia: A Case Report Journal of Clinical and Diagnostic Research congenital micromelia platyspondyly skeletal dysplasia |
| title | Thanatophoric Dysplasia: A Case Report |
| title_full | Thanatophoric Dysplasia: A Case Report |
| title_fullStr | Thanatophoric Dysplasia: A Case Report |
| title_full_unstemmed | Thanatophoric Dysplasia: A Case Report |
| title_short | Thanatophoric Dysplasia: A Case Report |
| title_sort | thanatophoric dysplasia a case report |
| topic | congenital micromelia platyspondyly skeletal dysplasia |
| url | https://jcdr.net/articles/PDF/6702/13201_CE[Ra]_F(P)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdf |
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