Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non‐lethal form of Raine syndrome. Issue 3 (17th January 2018)

• Record Type: Journal Article
• Authors: Tamai, Kei; Tada, Katsuhiko; Takeuchi, Akihito; Nakamura, Makoto; Marunaka, Hidenori; Washio, Yosuke; Tanaka, Hiroyuki; Miya, Fuyuki; Okamoto, Nobuhiko; Kageyama, Misao
• Is Part Of: American journal of medical genetics. Volume 176:Issue 3(2018)
• Page Start: 682
• Page End: 686
• Publication Date: 2018-01-17
• Subjects: cerebral hyperechogenicity -- FAM20C -- intracranial calcification -- Raine syndrome -- ultrasonography; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38598
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non‐lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified. She was subsequently discharged without surgical intervention and is now 2 years old with mild neurodevelopmental delays. Images of cerebral hyperechogenicity by fetal ultrasonography in a non‐lethal case were described herein for the first time. This patient represents a rare occurrence of a child with Raine syndrome born to Japanese parents and confirms that this syndrome is not always lethal. Even if Raine syndrome is suspected in a fetus due to cerebral hyperechogenicity and a hypoplastic nose, cerebral hyperechogenicity without pulmonary hypoplasia does not always predict lethality or severe neurodevelopmental delays. The information provided herein will be useful for prenatal counseling.