P44.15: Prenatal diagnosis of Peters-Plus Syndrome

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Prenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report

Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a cl...

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Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History.

Peters' plus syndrome is a rare autosomal recessive condition characterized by a combination of typical ocular defects and other systemic abnormalities. We present a case of this uncommon syndrome that we diagnosed during a fetal ultrasonographical examination. Because the patient exhibited microcephaly and anterior staphyloma of the right eye and because impending rupture was feared, we perfor...

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Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.

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Peters plus syndrome and absence of kidney: a case report

A case of bilateral Peters anomaly with missing kidney on left was examined. The case of missing kidney in Peters anomaly has not been reported in literature to our knowledge, making this case a unique one.

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Prenatal diagnosis of Joubert syndrome

Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and r...

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ژورنال

عنوان ژورنال: Ultrasound in Obstetrics and Gynecology

سال: 2008

ISSN: 0960-7692,1469-0705

DOI: 10.1002/uog.6194