title: A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.
abstract: We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.
authors.affiliation: Department of Pediatrics, Miyazaki Medical College, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sonoda
authors.forename: S
authors.initials: S
authors.lastname: Ohdo
authors.forename: H
authors.initials: H
authors.lastname: Madokoro
authors.forename: K
authors.initials: K
authors.lastname: Ohba
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome