741 Peters Plus Syndrome

Background Peters Plus syndrome is an autosomal recessive and rare disorder characterized by a variety of anterior eye chamber defects, of which the Peters anomaly occurs most frequently. Other major symptoms are a disproportionate short stature, developmental delay, characteristic craniofacial feat...

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Bibliographic Details
Published in:Archives of disease in childhood 2012-10, Vol.97 (Suppl 2), p.A214-A214
Main Authors: Maaloul, I, Sfaihi, L, Baklouti, K, Ameur, S Ben, Aloulou, H, Kamoun, T, Hachicha, M
Format: Article
Language:English
Subjects:
Child Health
Congenital Impairments
Developmental Delays
Genetics
Skeletal system
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Summary:Background Peters Plus syndrome is an autosomal recessive and rare disorder characterized by a variety of anterior eye chamber defects, of which the Peters anomaly occurs most frequently. Other major symptoms are a disproportionate short stature, developmental delay, characteristic craniofacial features, and cleft lip and/or palate. Observations We report 4 cases of peters plus syndrome who were admitted in the department of pediatric of sfax. The family history revealed consanguineous parents in 3 cases, ocular abnormalities in 2cases and the death of sibling in one case. Multiples abnormalities were noted in all cases just after birth like bilateral corneal opacities and facial dysmophism. 3 new borns had Skeletal system abnormalities (Short limbs, Short, broad hands, clinodactyly). Congenital heart malformations were present in 2 cases and renal anomalies were noted in one case. During the evolution, 3 patients presents a failure to thrive and developmental delay. One patient was died because of pneumonia. Conclusion Peters plus syndrome is inherited in an autosomal recessive manner. The diagnosis is based on clinical findings and genetic analysis; prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.
ISSN:0003-9888
1468-2044
DOI:10.1136/archdischild-2012-302724.0741