New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face

✍ Scribed by Okamoto, Nobuhiko; Matsumoto, Fumi; Shimada, Kenji; Satomura, Kenichi

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 149 KB
• Volume: 68
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970131)68:3<347::aid-ajmg18>3.0.co;2-t

✦ Synopsis

We have observed a newly recognized syndrome in two unrelated Japanese patients. Manifestations include severe mental retardation, growth failure, generalized floppiness, congenital hydronephrosis, cardiac anomalies, cleft palate, and characteristic face. To date, caused genesis is unknown.