title: Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.
abstract: A newborn male presenting with a peculiar appearance, hypertonia, a flexum attitude, hypospadias and skeletal abnormalities was found to bear a r 9 chromosome. A phenotypic distinction between early and late presenting forms is discussed.
authors.affiliation: Department of Medical Genetics, Institut de Morphologie Pathologique, Loverval.
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: F
authors.initials: F
authors.lastname: Avni
authors.forename: B
authors.initials: B
authors.lastname: Mossay
authors.forename: C
authors.initials: C
authors.lastname: Herens
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: Y
authors.initials: Y
authors.lastname: Gillerot
mesh_terms: D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D009139:Musculoskeletal Abnormalities