Prenatal diagnosis of Norrie disease based on ultrasound findings

Ultrasound Obstet Gynecol. 2019 Jul;54(1):138-139. doi: 10.1002/uog.20097.

Authors

C Dubucs¹, M Merveille², S Kessler², A Sevely³, N Chassaing^{1

4}, P Calvas^{1

4}

Affiliations

¹ Service de Génétique Médicale, CHU Toulouse, Toulouse, France.
² Centre d'échographie des Carmes, Toulouse, France.
³ Service de Radiologie Pédiatrique, CHU Toulouse, Toulouse, France.
⁴ UDEAR, UMR 1056 Inserm - Université de Toulouse, Toulouse, France.

PMID: 30125416
DOI: 10.1002/uog.20097

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abortion, Induced
Blindness / congenital*
Blindness / diagnostic imaging
Blindness / genetics
Diagnosis, Differential
Eye Abnormalities / diagnostic imaging
Eye Abnormalities / genetics
Female
Fetal Diseases / diagnostic imaging*
Fetal Diseases / genetics
Fetus
Genetic Diseases, X-Linked / diagnostic imaging*
Genetic Diseases, X-Linked / genetics
Humans
Magnetic Resonance Imaging / methods
Mutation / genetics
Nervous System Diseases / diagnostic imaging*
Nervous System Diseases / genetics
Pregnancy
Pregnancy Trimester, Third
Prenatal Diagnosis / methods*
Retinal Degeneration / diagnostic imaging*
Retinal Degeneration / genetics
Retinal Detachment / congenital
Retinal Detachment / diagnostic imaging*
Retinal Detachment / genetics
Spasms, Infantile / diagnostic imaging*
Spasms, Infantile / genetics
Ultrasonography, Prenatal / methods

Supplementary concepts

Norrie disease