Coincidence of Poland's syndrome with Turner's syndrome
Introduction: Poland's syndrome (PS) is an inborn defect consisting in unilateral underdevelopment of the pectoralis major muscle, homolateral anomalies of upper extremity, as well as mammary gland aplasia. PS occurrence frequency is determined as 1:7000 to 1:100 000. Turner's syndrome (TS...
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Termedia Publishing House
2011-03-01
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| Series: | Pediatric Endocrinology, Diabetes and Metabolism |
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| Online Access: | http://cornetis.pl/pliki/ED/2011/1/ED_2011_1_48.pdf |
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| author | Anna Noczyńska Andrzej Szuba Elżbieta Wójcik Beata Wikiera |
| author_facet | Anna Noczyńska Andrzej Szuba Elżbieta Wójcik Beata Wikiera |
| author_sort | Anna Noczyńska |
| collection | DOAJ |
| description | Introduction: Poland's syndrome (PS) is an inborn defect consisting in unilateral underdevelopment of the pectoralis major muscle, homolateral anomalies of upper extremity, as well as mammary gland aplasia. PS occurrence frequency is determined as 1:7000 to 1:100 000. Turner's syndrome (TS) results from lack of one sex chromosome or its incorrect structure and occurs with a frequency of 1:2000 of female sex newborns. Coincidence of both syndromes may hypothetically occur in 1:14 000 000 of females. Case report: A 5-year-old girl was diagnosed with a rare coincidence of PS and TS. It is the second description of PS and TS coincidence case in the literature. Low body mass, lymphatic edemas of the feet and developmental defect of the right hand in form of defective palm development and syndactyly were found after birth. At the age of 3, after digit separation procedure, she was referred to an endocrinologist because of short stature (83 cm, -3.35 SDS). Right pectoral muscle and right hand hypoplasia were found during physical examination as well as the presence of dysmorphic characteristics. The result of cytogenetic examination confirmed TS diagnosis. She began treatment with growth hormone at the age of 4.5 years. Conclusions: Appearance of PS in female patients with TS may dub diagnostic vigilance and delay TS diagnosis. Growth deficit in girls with PS constitutes the indication for karyotype testing. |
| format | Article |
| id | doaj-art-4c8d8517a2814f729602a4d1b6ceb6d6 |
| institution | Kabale University |
| issn | 2081-237X |
| language | English |
| publishDate | 2011-03-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatric Endocrinology, Diabetes and Metabolism |
| spelling | doaj-art-4c8d8517a2814f729602a4d1b6ceb6d62025-01-02T16:51:07ZengTermedia Publishing HousePediatric Endocrinology, Diabetes and Metabolism2081-237X2011-03-011714851Coincidence of Poland's syndrome with Turner's syndromeAnna NoczyńskaAndrzej SzubaElżbieta WójcikBeata WikieraIntroduction: Poland's syndrome (PS) is an inborn defect consisting in unilateral underdevelopment of the pectoralis major muscle, homolateral anomalies of upper extremity, as well as mammary gland aplasia. PS occurrence frequency is determined as 1:7000 to 1:100 000. Turner's syndrome (TS) results from lack of one sex chromosome or its incorrect structure and occurs with a frequency of 1:2000 of female sex newborns. Coincidence of both syndromes may hypothetically occur in 1:14 000 000 of females. Case report: A 5-year-old girl was diagnosed with a rare coincidence of PS and TS. It is the second description of PS and TS coincidence case in the literature. Low body mass, lymphatic edemas of the feet and developmental defect of the right hand in form of defective palm development and syndactyly were found after birth. At the age of 3, after digit separation procedure, she was referred to an endocrinologist because of short stature (83 cm, -3.35 SDS). Right pectoral muscle and right hand hypoplasia were found during physical examination as well as the presence of dysmorphic characteristics. The result of cytogenetic examination confirmed TS diagnosis. She began treatment with growth hormone at the age of 4.5 years. Conclusions: Appearance of PS in female patients with TS may dub diagnostic vigilance and delay TS diagnosis. Growth deficit in girls with PS constitutes the indication for karyotype testing.http://cornetis.pl/pliki/ED/2011/1/ED_2011_1_48.pdf Turner's syndromepectoral muscle aplasiasyndactyly |
| spellingShingle | Anna Noczyńska Andrzej Szuba Elżbieta Wójcik Beata Wikiera Coincidence of Poland's syndrome with Turner's syndrome Pediatric Endocrinology, Diabetes and Metabolism Turner's syndrome pectoral muscle aplasia syndactyly |
| title | Coincidence of Poland's syndrome with Turner's syndrome |
| title_full | Coincidence of Poland's syndrome with Turner's syndrome |
| title_fullStr | Coincidence of Poland's syndrome with Turner's syndrome |
| title_full_unstemmed | Coincidence of Poland's syndrome with Turner's syndrome |
| title_short | Coincidence of Poland's syndrome with Turner's syndrome |
| title_sort | coincidence of poland s syndrome with turner s syndrome |
| topic | Turner's syndrome pectoral muscle aplasia syndactyly |
| url | http://cornetis.pl/pliki/ED/2011/1/ED_2011_1_48.pdf |
| work_keys_str_mv | AT annanoczynska coincidenceofpolandssyndromewithturnerssyndrome AT andrzejszuba coincidenceofpolandssyndromewithturnerssyndrome AT elzbietawojcik coincidenceofpolandssyndromewithturnerssyndrome AT beatawikiera coincidenceofpolandssyndromewithturnerssyndrome |