خلل التنسج الغضروفي المنقط المرتبط بالتقيؤ الحملي الشديد (تقرير الحالة)
الكلمات المفتاحية:
Chondrodysplasia punctate, hyperemesis gravidarum, vitamin K deficiency embryopathy .الملخص
Abstract
Chondrodysplasia punctata is a very rare congenital disorder characterized by abnormal calcification within growing cartilage at the ends of the long bones affecting their growth. It has seen in inherited and acquired disorders. Acquired cases during pregnancy involve those associated with deranged vitamin K metabolism.
Chondrodysplasia punctata may be seen in infants of mother of severe hyperemesis gravidarum as result in maternal-fetal vitamin K deficiency
We report 2.5 years girl with features of chondrodysplasia punctata in whom maternal pregnancy history was suggestive of hyperemesis gravidarum. According to my information, this is the first recorded case in holy Karbala governorate.
المراجع
References
1. Mahale, Y., V.V. Kadu, and A. Chaudhari, Rare Case of Rhizomelic Chondrodysplasia Punctata. J Orthop Case Rep, 2015. 5(3): p. 38-40.
2. González-Ortiz, C., S.L. Jaimes, and G. Contreras-García, Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report. Revista chilena de pediatria, 2017. 88(4): p. 511-516.
3. JohnnyJohnson, J., DMD, MSPhillip R. Parker, DDS,MS WilliamF. Vann,Jr., DMD, MS,PhD, <Chondrodysplasia punctata case report with dental findings.pdf>. TheAmericanAcademy of Pediatric Dentistry, 1986. 8(2).
4. Miller, S.F., et al., 269: Chondrodysplasia punctata associated with maternal hyperemesis gravidarum: A variable and potentially preventable phenotype. American Journal of Obstetrics and Gynecology, 2018. 218(1): p. S171-S172.
5. Songmen, S., et al., Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome. Journal of Nepal Health Research Council, 2017. 15(1): p. 81-84.
6. Jurkiewicz, E., et al., Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. Pol J Radiol, 2013. 78(2): p. 57-64.
7. Vrecar, I., et al., Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. Mol Cytogenet, 2015. 8: p. 83.
8. Koc, U. and P. Karakas, Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia. Turk J Pediatr, 2017. 59(5): p. 604-609.
9. Nancy E Braverman, M., MD, Michael Bober, MD, PhD, Nicola Brunetti-Pierri, MD, and Gretchen L Oswald, MS, CGC., <Chondrodysplasia Punctata 1.pdf>. 2014.
10. Toriello, H.V., et al., Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A, 2013. 161A(3): p. 417-29.
11. Lane, A.S., et al., Vitamin K Deficiency Embryopathy from Hyperemesis Gravidarum. Case Rep Obstet Gynecol, 2015. 2015: p. 324173.
12. Poznanski, A.K., <Punctate epiphyses A radiological sign not a disease.pdf>. Pediatric Radiology, 1994. 24,(6): p. 418–424.
13. Daniele, A., et al., Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet, 1998. 62(3): p. 562-72.
14. Jeon, G.W., et al., Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. Annals of Clinical & Laboratory Science, 2013. 43(1): p. 70-75.
15. Menger H1, L.A., Toriello HV, Bernert G, Spranger JW., <Vitamin K deficiency embryopathy.pdf>. Am J Med Genet A, 1997. 17;72(2):(Oct 1997 ): p. 129-34.
16. NRobinsonMDaRiniBanerjeeMDaMari-PauleThietMDa, p., Coagulopathy secondary to vitamin K deficiency in hyperemesis gravidarum. Obstetrics & Gynecology, 1998. Volume 92,(Issue 4): p. Pages 673-675.
17. Braverman, N.E., et al., <Chondrodysplasia Punctata 1 X-Linked.pdf>. GeneReviews, 2014.
18. Blask, A.R., et al., Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata Pediatric radiology, 2018. 48(7): p. 979-991.
1. Mahale, Y., V.V. Kadu, and A. Chaudhari, Rare Case of Rhizomelic Chondrodysplasia Punctata. J Orthop Case Rep, 2015. 5(3): p. 38-40.
2. González-Ortiz, C., S.L. Jaimes, and G. Contreras-García, Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report. Revista chilena de pediatria, 2017. 88(4): p. 511-516.
3. JohnnyJohnson, J., DMD, MSPhillip R. Parker, DDS,MS WilliamF. Vann,Jr., DMD, MS,PhD, <Chondrodysplasia punctata case report with dental findings.pdf>. TheAmericanAcademy of Pediatric Dentistry, 1986. 8(2).
4. Miller, S.F., et al., 269: Chondrodysplasia punctata associated with maternal hyperemesis gravidarum: A variable and potentially preventable phenotype. American Journal of Obstetrics and Gynecology, 2018. 218(1): p. S171-S172.
5. Songmen, S., et al., Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome. Journal of Nepal Health Research Council, 2017. 15(1): p. 81-84.
6. Jurkiewicz, E., et al., Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. Pol J Radiol, 2013. 78(2): p. 57-64.
7. Vrecar, I., et al., Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. Mol Cytogenet, 2015. 8: p. 83.
8. Koc, U. and P. Karakas, Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia. Turk J Pediatr, 2017. 59(5): p. 604-609.
9. Nancy E Braverman, M., MD, Michael Bober, MD, PhD, Nicola Brunetti-Pierri, MD, and Gretchen L Oswald, MS, CGC., <Chondrodysplasia Punctata 1.pdf>. 2014.
10. Toriello, H.V., et al., Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A, 2013. 161A(3): p. 417-29.
11. Lane, A.S., et al., Vitamin K Deficiency Embryopathy from Hyperemesis Gravidarum. Case Rep Obstet Gynecol, 2015. 2015: p. 324173.
12. Poznanski, A.K., <Punctate epiphyses A radiological sign not a disease.pdf>. Pediatric Radiology, 1994. 24,(6): p. 418–424.
13. Daniele, A., et al., Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet, 1998. 62(3): p. 562-72.
14. Jeon, G.W., et al., Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. Annals of Clinical & Laboratory Science, 2013. 43(1): p. 70-75.
15. Menger H1, L.A., Toriello HV, Bernert G, Spranger JW., <Vitamin K deficiency embryopathy.pdf>. Am J Med Genet A, 1997. 17;72(2):(Oct 1997 ): p. 129-34.
16. NRobinsonMDaRiniBanerjeeMDaMari-PauleThietMDa, p., Coagulopathy secondary to vitamin K deficiency in hyperemesis gravidarum. Obstetrics & Gynecology, 1998. Volume 92,(Issue 4): p. Pages 673-675.
17. Braverman, N.E., et al., <Chondrodysplasia Punctata 1 X-Linked.pdf>. GeneReviews, 2014.
18. Blask, A.R., et al., Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata Pediatric radiology, 2018. 48(7): p. 979-991.
منشور
2019-02-25
كيفية الاقتباس
abdulhussein, mahdi abdulsahib. (2019). خلل التنسج الغضروفي المنقط المرتبط بالتقيؤ الحملي الشديد (تقرير الحالة). مجلة كربلاء الطبية, 11(2), 4064. استرجع في من http://journals.uokerbala.edu.iq/index.php/kj/article/view/619
إصدار
القسم
Case Report
