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Abstract #15446 Published in IGR 1-3
Growth retardation, distinct oriental like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder: an unknown entity
Dacou-Voutetakis C; Bazopoulou-Kyrkanidou E; Kyrkanides S; Pangalos C; Apostolakis AGenetic Counselling 1999; 10: 245-250
A Caucasian boy with distinct oriental-like features, short stature, brachydactyly, congenital ventricular septal defect, glaucoma, and speech disorder is reported. Routine laboratory tests, karyotype, and hormonal profile (IGF 1, growth hormone during provocative testing, thyroid hormones, prolactin, gonadotrophins) were normal. Radiological skeletal survey did not disclose any abnormality. Both parents were apparently normal, but short in stature.
Dr. E. Bazopoulou-Kyrkanidou, Department of Oral Pathology Surgery, Faculty of Dentistry, University of Athens, 2 Thivon Street, GR-115 27 Athens; Greece
Classification:
9.1.4 Other (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
