1.
Am J Med Genet
; 52(3): 302-7, 1994 Sep 01.
Article
in English
| MEDLINE
| ID: mdl-7810561
ABSTRACT
A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed.
Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Intellectual Disability/genetics , Tooth Abnormalities/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Child , Female , Humans , Male , Skull/abnormalities , Syndactyly/genetics , Syndrome
2.
Minerva Endocrinol
; 12(1): 29-32, 1987.
Article
in English
| MEDLINE
| ID: mdl-3035358
Subject(s)
Deafness/congenital , Goiter/genetics , Sodium Compounds , Adult , Female , Goiter/diagnosis , Goiter/enzymology , Humans , Isoenzymes/analysis , Male , Pedigree , Perchlorates , Peroxidase , Peroxidases/analysis , Recurrence , Syndrome , Thyroid Gland/enzymology
3.
Ann Genet
; 29(1): 62-4, 1986.
Article
in English
| MEDLINE
| ID: mdl-3487281
ABSTRACT
A case of de novo double independent balanced translocation t(1;7)(q44;q22), t(8;10)(q22;q26) in a girl with mild phenotypical stigmata is reported. Beside hyposomia with retarded bone age and slightly dysmorphic ear, no other abnormality was detectable and the psychomotor development was normal. A review of the similar casuistry in literature is made.
