Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal roo...

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Vydáno v:Clin Case Rep
Hlavní autoři: Hishimura, Nozomi, Watari, Michiko, Ohata, Hiroki, Fuseya, Naho, Wakiguchi, Sadae, Tokutomi, Tomoharu, Okuhara, Kouji, Takahashi, Nobuhiro, Iizuka, Susumu, Yamamoto, Hiroshi, Mishima, Takashi, Fujieda, Satoko, Kobayashi, Ryoji, Cho, Kazutoshi, Kuroda, Yukiko, Kurosawa, Kenji, Tonoki, Hidefumi
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2016
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5224771/
https://ncbi.nlm.nih.gov/pubmed/28096980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.738
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