Premium
Prenatal sonographic findings in Peters‐plus syndrome
Author(s) -
Boog G.,
Le Vaillant C.,
Joubert M.
Publication year - 2005
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.1910
Subject(s) - microphthalmia , medicine , pax6 , autopsy , prenatal diagnosis , genetic counseling , autosomal recessive trait , pregnancy , pediatrics , fetus , anatomy , pathology , genetics , gene , transcription factor , biology
Peters syndrome is a congenital disease resulting from deficient cleavage of the anterior chamber of the eye. Peters‐plus syndrome (PpS) is characterized by the typical ocular anomalies of Peters syndrome in association with impaired growth, mental retardation and other malformations. We report the first prenatal description of PpS in the 20‐week fetus of a consanguineous couple. Ultrasound examination revealed microphthalmia and hyperechogenicity of the anterior part of the eye with a central defect, micrognathia and long philtrum, short limbs with broad extremities and unilateral multicystic kidney. The pregnancy was terminated on parental request. Autopsy, including careful ocular examination, established the diagnosis of PpS. PpS has an autosomal‐recessive mode of inheritance. The ocular anomaly has been linked with mutations in genes PAX6, PITX2, PITX3 and CYP1B1, but the causal factor of PpS remains unknown. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.