Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2022/3056324 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832568189904486400 |
|---|---|
| author | Lamidi Audu Amina Gambo Tokan Silas Baduku Bilkisu Farouk Anisa Yahaya Kefas Jacob |
| author_facet | Lamidi Audu Amina Gambo Tokan Silas Baduku Bilkisu Farouk Anisa Yahaya Kefas Jacob |
| author_sort | Lamidi Audu |
| collection | DOAJ |
| description | Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2nd and 3rd-trimester sonographic examinations. Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature. |
| format | Article |
| id | doaj-art-fe3f56c407f54123afeb7d8d250f618f |
| institution | Kabale University |
| issn | 2090-6811 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-fe3f56c407f54123afeb7d8d250f618f2025-02-03T00:59:36ZengWileyCase Reports in Pediatrics2090-68112022-01-01202210.1155/2022/3056324Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal MisdiagnosisLamidi Audu0Amina Gambo1Tokan Silas Baduku2Bilkisu Farouk3Anisa Yahaya4Kefas Jacob5Department of Paediatrics and Child HealthDepartment of Paediatrics and Child HealthDepartment of Paediatrics and Child HealthDepartment of Paediatrics and Child HealthDepartment of RadiologyDepartment of RadiologyThanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2nd and 3rd-trimester sonographic examinations. Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature.http://dx.doi.org/10.1155/2022/3056324 |
| spellingShingle | Lamidi Audu Amina Gambo Tokan Silas Baduku Bilkisu Farouk Anisa Yahaya Kefas Jacob Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis Case Reports in Pediatrics |
| title | Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis |
| title_full | Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis |
| title_fullStr | Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis |
| title_full_unstemmed | Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis |
| title_short | Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis |
| title_sort | thanatophoric dysplasia a report of 2 cases with antenatal misdiagnosis |
| url | http://dx.doi.org/10.1155/2022/3056324 |
| work_keys_str_mv | AT lamidiaudu thanatophoricdysplasiaareportof2caseswithantenatalmisdiagnosis AT aminagambo thanatophoricdysplasiaareportof2caseswithantenatalmisdiagnosis AT tokansilasbaduku thanatophoricdysplasiaareportof2caseswithantenatalmisdiagnosis AT bilkisufarouk thanatophoricdysplasiaareportof2caseswithantenatalmisdiagnosis AT anisayahaya thanatophoricdysplasiaareportof2caseswithantenatalmisdiagnosis AT kefasjacob thanatophoricdysplasiaareportof2caseswithantenatalmisdiagnosis |