TY - JOUR
T1 - Growth retardation, distinct oriental like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unkown entity
AU - Dacou-Voutetakis, C.
AU - Bazopoulou-Kyrkanidou, Euterpe
AU - Kyrkanides, S.
AU - Pangalos, C.
AU - Apostolakis, A.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
KW - Dwarfism
KW - Glaucoma
KW - Multiple abnormalities
KW - Oriental like face
KW - Speech disorder
KW - Ventricular septal defect
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M3 - Article
C2 - 10546095
AN - SCOPUS:0032827487
SN - 1015-8146
VL - 10
SP - 245
EP - 250
JO - Genetic Counseling
JF - Genetic Counseling
IS - 3
ER -