Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity.
A caucasian boy with distinct oriental-like facies, 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. Radiologic skeletal survey did not disclose any abnormality. Both parents were apparently normal, but short in stature.
Dacou-Voutetakis
C
C
First Department of Pediatrics, Athens University, Agia Sophia Children's Hospital, Greece.
Bazopoulou-Kyrkanidou
E
E
Kyrkanides
S
S
Pangalos
C
C
Apostolakis
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D001827:Body Height; D002648:Child; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005901:Glaucoma / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D008297:Male; D013064:Speech Disorders / Q000235:genetics*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D044465:White People / Q000235:genetics*