SHORT syndrome in a two-year-old girl - case report

• Những tác giả chính: Maria Klatka (Tác giả), Izabela Rysz (Tác giả), Katarzyna Kozyra (Tác giả), Agnieszka Polak (Tác giả), Witold Kołłątaj (Tác giả)
• Định dạng: Sách
• Được phát hành: BMC, 2017-05-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

Abstract Background SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. Case presentation We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, pr...