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

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

Key Clinical Message 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, an...

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Veröffentlicht in:Clinical case reports 2017-01, Vol.5 (1), p.5-8
Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
Airway management
Amino acids
Case Report
Case Reports
Esophagus
Fetuses
Fingers & toes
Mutation
Patients
prenatal diagnosis
Schinzel–Giedion syndrome
SETBP1
Ultrasonic imaging
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Zusammenfassung:Key Clinical Message 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 root may suggest 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 root may suggest Schinzel–Giedion syndrome.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.738