Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
نویسندگان
چکیده
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.
منابع مشابه
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. It is caused by splice site mutations in what was thought to be a beta1,3-galactosyltransferase-like gene (B3GALTL). Recently, we and others found this gene to encode a beta1,3-glucosyltransferase involved in the...
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Peters' anomaly is usually a sporadic or autosomal recessive condition. We present three families whose members had dominantly inherited anterior segment anomalies with variable expression, including typical Peters' anomaly in at least one family member. Slit-lamp examination of parents and family members of children with Peters' anomaly is therefore important to exclude dominant inheritance.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 4 شماره
صفحات -
تاریخ انتشار 1991