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Images in paediatrics
Congenital brachymetatarsia and Turner syndrome A prepubertal 12-year-old girl was referred with short stature (height −2.68 SDS). She had been born small for gestation, at term, to healthy unrelated parents. Right hip developmental dysplasia had needed corrective osteotomy. The only clinical findings were asymptomatic bilateral short fourth metatarsals (figures 1 and 2), present from early childhood, but doctors had often reassured her parents about this anomaly in the past. Baseline serum gonadotrophins were elevated, suggesting primary ovarian insufficiency: follicle-stimulating hormone 81.6 U/L (2.8–11.3), luteinizing hormone 26.3 U/L (1.11–11.6). Thyroid function, parathyroid hormone, calcium, phosphate and tissue transglutaminase antibodies were normal. Her karyotype was 45,X, confirming a diagnosis of Turner syndrome. Short stature is almost invariable in Turner syndrome; suboptimal growth throughout childhood leads to a deficit of about 20 cm in final adult height compared with healthy women.1 Other possible phenotypic features include a webbed neck, low posterior hairline, low-set ears, ptosis, high-arched palate, pigmented naevi, dysplastic fingernails, cubitus valgus and short fourth and fifth metacarpals and metatarsals. Congenital brachymetatarsia is a rare condition that arises from premature closure of the metatarsal epiphyseal plate.2 Females are almost exclusively affected, and the fourth metatarsal is the most frequently involved.2 3 Brachymetatarsia can cause forefoot pain, callosities, difficulty with footwear due to toe alignment and cosmetic concerns.2 Although idiopathic in some individuals, it can be associated with Turner syndrome, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, Down syndrome and diastrophic dysplasia.2 4 Recognition of its association with Turner syndrome could possibly have led to an earlier diagnosis in our patient. This would have given her a longer period of time for growth-promoting therapy before epiphyseal fusion, potentially translating into a taller final adult height. Surgical correction of brachymetatarsia is possible if pain
Figure 2
Radiograph of right foot showing fourth brachymetatarsia.
and/or cosmetic appearance are issues,5 but growth hormone therapy is unlikely to increase the length of affected metatarsals. Nancy Formosa, Mark Buttigieg, John Torpiano Department of Paediatrics, Mater Dei Hospital, Msida, Malta Correspondence to Dr Nancy Formosa, Department of Paediatrics, Mater Dei Hospital, Msida MSD 2090, Malta; [email protected] Competing interests None declared. Patient consent Obtained. Provenance and peer review Not commissioned; internally peer reviewed.
To cite Formosa N, Buttigieg M, Torpiano J. Arch Dis Child 2016;101:332. Accepted 24 October 2015 Published Online First 18 November 2015 Arch Dis Child 2016;101:332. doi:10.1136/archdischild-2015-309707
REFERENCES 1
2 3
4 5
Figure 1 Bilateral fourth brachymetatarsia in a girl with Turner syndrome. 332
Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10–25. Schimizzi A, Brage M. Brachymetatarsia. Foot Ankle Clin 2004;9:555–70. Robinson JF, Ouzounian TJ. Brachymetatarsia: congenitally short third and fourth metatarsals treated by distraction lengthening—a case report and literature summary. Foot Ankle Int 1998;19:713–18. Scheiner DE, Chamas CE. Brachymetatarsia: a review and case study. J Foot Surg 1983;22:257–62. Giannini S, Faldini C, Pagkrati S, et al. One-stage metatarsal lengthening by allograft interposition: a novel approach for congenital brachymetatarsia. Clin Orthop Relat Res 2010;468:1933–42.
Formosa N, et al. Arch Dis Child April 2016 Vol 101 No 4
Downloaded from http://adc.bmj.com/ on March 28, 2017 - Published by group.bmj.com
Congenital brachymetatarsia and Turner syndrome Nancy Formosa, Mark Buttigieg and John Torpiano Arch Dis Child 2016 101: 332 originally published online November 18, 2015
doi: 10.1136/archdischild-2015-309707 Updated information and services can be found at: http://adc.bmj.com/content/101/4/332
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This article cites 5 articles, 1 of which you can access for free at: http://adc.bmj.com/content/101/4/332#BIBL Receive free email alerts when new articles cite this article. Sign up in the box at the top right corner of the online article.
Articles on similar topics can be found in the following collections Sexual health (352) Pain (neurology) (598) Reproductive medicine (945) Competing interests (ethics) (206) Calcium and bone (78) Dermatology (377) Drugs: CNS (not psychiatric) (497) Journalology (262) Metabolic disorders (761) Rheumatology (521) Child health (3922)
Notes
To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
Images in paediatrics
Congenital brachymetatarsia and Turner syndrome A prepubertal 12-year-old girl was referred with short stature (height −2.68 SDS). She had been born small for gestation, at term, to healthy unrelated parents. Right hip developmental dysplasia had needed corrective osteotomy. The only clinical findings were asymptomatic bilateral short fourth metatarsals (figures 1 and 2), present from early childhood, but doctors had often reassured her parents about this anomaly in the past. Baseline serum gonadotrophins were elevated, suggesting primary ovarian insufficiency: follicle-stimulating hormone 81.6 U/L (2.8–11.3), luteinizing hormone 26.3 U/L (1.11–11.6). Thyroid function, parathyroid hormone, calcium, phosphate and tissue transglutaminase antibodies were normal. Her karyotype was 45,X, confirming a diagnosis of Turner syndrome. Short stature is almost invariable in Turner syndrome; suboptimal growth throughout childhood leads to a deficit of about 20 cm in final adult height compared with healthy women.1 Other possible phenotypic features include a webbed neck, low posterior hairline, low-set ears, ptosis, high-arched palate, pigmented naevi, dysplastic fingernails, cubitus valgus and short fourth and fifth metacarpals and metatarsals. Congenital brachymetatarsia is a rare condition that arises from premature closure of the metatarsal epiphyseal plate.2 Females are almost exclusively affected, and the fourth metatarsal is the most frequently involved.2 3 Brachymetatarsia can cause forefoot pain, callosities, difficulty with footwear due to toe alignment and cosmetic concerns.2 Although idiopathic in some individuals, it can be associated with Turner syndrome, pseudohypoparathyroidism, pseudo-pseudohypoparathyroidism, Down syndrome and diastrophic dysplasia.2 4 Recognition of its association with Turner syndrome could possibly have led to an earlier diagnosis in our patient. This would have given her a longer period of time for growth-promoting therapy before epiphyseal fusion, potentially translating into a taller final adult height. Surgical correction of brachymetatarsia is possible if pain
Figure 2
Radiograph of right foot showing fourth brachymetatarsia.
and/or cosmetic appearance are issues,5 but growth hormone therapy is unlikely to increase the length of affected metatarsals. Nancy Formosa, Mark Buttigieg, John Torpiano Department of Paediatrics, Mater Dei Hospital, Msida, Malta Correspondence to Dr Nancy Formosa, Department of Paediatrics, Mater Dei Hospital, Msida MSD 2090, Malta; [email protected] Competing interests None declared. Patient consent Obtained. Provenance and peer review Not commissioned; internally peer reviewed.
To cite Formosa N, Buttigieg M, Torpiano J. Arch Dis Child 2016;101:332. Accepted 24 October 2015 Published Online First 18 November 2015 Arch Dis Child 2016;101:332. doi:10.1136/archdischild-2015-309707
REFERENCES 1
2 3
4 5
Figure 1 Bilateral fourth brachymetatarsia in a girl with Turner syndrome. 332
Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10–25. Schimizzi A, Brage M. Brachymetatarsia. Foot Ankle Clin 2004;9:555–70. Robinson JF, Ouzounian TJ. Brachymetatarsia: congenitally short third and fourth metatarsals treated by distraction lengthening—a case report and literature summary. Foot Ankle Int 1998;19:713–18. Scheiner DE, Chamas CE. Brachymetatarsia: a review and case study. J Foot Surg 1983;22:257–62. Giannini S, Faldini C, Pagkrati S, et al. One-stage metatarsal lengthening by allograft interposition: a novel approach for congenital brachymetatarsia. Clin Orthop Relat Res 2010;468:1933–42.
Formosa N, et al. Arch Dis Child April 2016 Vol 101 No 4
Downloaded from http://adc.bmj.com/ on March 28, 2017 - Published by group.bmj.com
Congenital brachymetatarsia and Turner syndrome Nancy Formosa, Mark Buttigieg and John Torpiano Arch Dis Child 2016 101: 332 originally published online November 18, 2015
doi: 10.1136/archdischild-2015-309707 Updated information and services can be found at: http://adc.bmj.com/content/101/4/332
These include:
References Email alerting service
Topic Collections
This article cites 5 articles, 1 of which you can access for free at: http://adc.bmj.com/content/101/4/332#BIBL Receive free email alerts when new articles cite this article. Sign up in the box at the top right corner of the online article.
Articles on similar topics can be found in the following collections Sexual health (352) Pain (neurology) (598) Reproductive medicine (945) Competing interests (ethics) (206) Calcium and bone (78) Dermatology (377) Drugs: CNS (not psychiatric) (497) Journalology (262) Metabolic disorders (761) Rheumatology (521) Child health (3922)
Notes
To request permissions go to: http://group.bmj.com/group/rights-licensing/permissions To order reprints go to: http://journals.bmj.com/cgi/reprintform To subscribe to BMJ go to: http://group.bmj.com/subscribe/
