All Madelung deformities are not endocrine
Madelung deformity is a rare inherited disorder associated with endocrine disorders like Turner′s syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD) and Langers mesomelic dysplasia. It has also been reporte...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2013-01-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | http://www.ijem.in/article.asp?issn=2230-8210;year=2013;volume=17;issue=7;spage=231;epage=233;aulast=Kumar |
| _version_ | 1811238331723284480 |
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| author | Ajay Kumar Gopal K Rai Javed Akhtar Rajeev Phillip Manish Gutch T. V. S. Arya |
| author_facet | Ajay Kumar Gopal K Rai Javed Akhtar Rajeev Phillip Manish Gutch T. V. S. Arya |
| author_sort | Ajay Kumar |
| collection | DOAJ |
| description | Madelung deformity is a rare inherited disorder associated with endocrine disorders like Turner′s syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD) and Langers mesomelic dysplasia. It has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis (MPS) and achondroplasia. Madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna. A 13-year-old girl was referred to us for evaluation of bilateral deformity of wrist and short stature. There was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness. On X-ray, wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of Madelung deformity. X-ray spine was normal. Ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone. Luteinizing hormone was normal and so was urine MPS screening. Based on the above points the diagnosis of LWD was made. |
| first_indexed | 2024-04-12T12:39:55Z |
| format | Article |
| id | doaj.art-da9197dd46de4c6ca5d1d72b9be75e58 |
| institution | Directory Open Access Journal |
| issn | 2230-8210 2230-9500 |
| language | English |
| last_indexed | 2024-04-12T12:39:55Z |
| publishDate | 2013-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Endocrinology and Metabolism |
| spelling | doaj.art-da9197dd46de4c6ca5d1d72b9be75e582022-12-22T03:32:48ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-82102230-95002013-01-0117723123310.4103/2230-8210.119581All Madelung deformities are not endocrineAjay KumarGopal K RaiJaved AkhtarRajeev PhillipManish GutchT. V. S. AryaMadelung deformity is a rare inherited disorder associated with endocrine disorders like Turner′s syndrome, pseudohypoparathyroidism, but can be seen with short stature homeobox deficiency conditions such as Leri-Weill dyschondrosteosis (LWD) and Langers mesomelic dysplasia. It has also been reported following trauma to the distal radius epiphysis neoplasia mucopolysaccharidosis (MPS) and achondroplasia. Madelung deformity is an abnormality of distal radial epiphysis where in progressive ulnar and volar tilt of the articular surface occurring in association with distal subluxation of ulna. A 13-year-old girl was referred to us for evaluation of bilateral deformity of wrist and short stature. There was ulnar deviation and dorsal tilt of bilateral hands without history of pain to the joint trauma and family history of similar illness. On X-ray, wrist showed malformed distal radial epiphysis with dorsal and ulnar shift and with increased length of phalanges suggestive of Madelung deformity. X-ray spine was normal. Ultrasound abdomen showed normal uterus and ovary and her follicle stimulating hormone. Luteinizing hormone was normal and so was urine MPS screening. Based on the above points the diagnosis of LWD was made.http://www.ijem.in/article.asp?issn=2230-8210;year=2013;volume=17;issue=7;spage=231;epage=233;aulast=KumarAchondroplasiadyschondrosteosisMadelung |
| spellingShingle | Ajay Kumar Gopal K Rai Javed Akhtar Rajeev Phillip Manish Gutch T. V. S. Arya All Madelung deformities are not endocrine Indian Journal of Endocrinology and Metabolism Achondroplasia dyschondrosteosis Madelung |
| title | All Madelung deformities are not endocrine |
| title_full | All Madelung deformities are not endocrine |
| title_fullStr | All Madelung deformities are not endocrine |
| title_full_unstemmed | All Madelung deformities are not endocrine |
| title_short | All Madelung deformities are not endocrine |
| title_sort | all madelung deformities are not endocrine |
| topic | Achondroplasia dyschondrosteosis Madelung |
| url | http://www.ijem.in/article.asp?issn=2230-8210;year=2013;volume=17;issue=7;spage=231;epage=233;aulast=Kumar |
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