Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?
We report on two children from an inbred Arab family with anterior segment anomalies of the eyes, growth retardation, associated with small pituitary gland, and endocrine abnormalities. The features in the sibs in this report are similar to those described in Peters-plus syndrome. However, small pituitary gland associated with growth hormone deficiency has not been reported in Peters-plus syndrome. In addition, sequencing of the B3GALTL gene, the gene implicated in Peters-plus syndrome did not reveal any mutation in the sibs reported here. The association of anterior segment anomalies of the eye, growth retardation, and endocrine problems has previously been described by Jung et al. in 1995. We suggest that the features in the children in this report could represent variable manifestation of this syndrome or previously not described syndrome.
Al-Gazali
Lihadh
L
Department of Paediatrics and Pathology, Faculty of Medicine & Health Sciences, UAE University, Al Ain, UAE. algazali@hotmail.com
Shather
Bedir
B
Kaplan
Waleed
W
Algawi
Kais
K
Ali
Bassam R
BR
D000869:Anterior Eye Segment / Q000002:abnormalities*; D018912:Arabs; D002675:Child, Preschool; D004703:Endocrine System / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics; D005192:Family Health; D005700:Galactosyltransferases / Q000235:genetics; D005964:Glucosyltransferases; D006801:Humans; D007223:Infant; D010902:Pituitary Gland / Q000002:abnormalities*; D035781:Siblings; D013577:Syndrome
C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases