Prenatal detection of Peters plus-like syndrome
نویسندگان
چکیده
منابع مشابه
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...
متن کاملPrenatal 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...
متن کاملShort 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.
متن کاملPeters 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.
متن کاملImpaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome
Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from recessive mutations affecting the glucosyltransferase B3GLCT, leading to congenital corneal opacity and diverse extra-ocular manifestations. Together with the fucosyltransferase POFUT2, B3GLCT adds Glucoseβ1-3Fucose disaccharide to a consensus sequence in thrombospondin type 1 repeats (TSRs) of several proteins. Wh...
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ژورنال
عنوان ژورنال: Journal of Turkish Society of Obstetric and Gynecology
سال: 2018
ISSN: 1307-699X,2149-9330
DOI: 10.4274/tjod.45649