Báo cáo hóa học: " Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report | Metwalley Kalil and Fargalley Journal of Medical Case Reports 2012 6 35 http content 6 1 35 JOURNALOF medical Ur Case REPORTS CASE REPORT Open Access Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome a case report Kotb Abbass Metwalley Kalil and Hekma Saad Fargalley Abstract Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome OMIM No. 129900 is characterized by the triad of ectrodactyly ectodermal dysplasia and facial clefting of the lip and or palate . Holoprosencephaly denotes a failure in the division of the embryonic forebrain prosencephalon into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report holoprosencephaly in an Egyptian infant with ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome. Case presentation An 11-month-old Egyptian female baby was referred to our institution for an evaluation of poor growth the pregnancy and perinatal history were uneventful. On examination her growth parameters were below the third centile she had bilateral ectrodactyly of both hands and feet dry rough skin sparse hair of the scalp and operated right cleft lip and cleft palate. Computerized tomography of her brain revealed holoprosencephaly. Conclusion The importance of the early diagnosis of this syndrome should be emphasized in order to implement a multidisciplinary approach for proper management of such cases. Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome EEC syndrome OMIM No. 129900 is characterized by the triad of ectrodactyly ectodermal dysplasia and facial clefting lip and or palate . It is a complex pleiotropic multiple congenital anomaly or dysplasia in which any of the three cardinal signs can present with variable expression. It may also be associated with many defects not necessarily of ectodermal origin 1

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