Ring chromosome 22: a case report.
A three year old girl with ring chromosome 22 is described. The clinical findings include epicanthus, flat nasal bridge, hypertelorism, long eye-lashes, lymphoedema, hypoplastic toe nails, hydrocephalus and muscular hypotonia. Speech and language development is delayed. At three years the child begins to walk.
Severien
C
C
Universitäts-Kinderklinik, St. Josef-Hospital Bochum.
Felix
S
S
Bartholomé
K
K
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D002658:Developmental Disabilities / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007231:Infant, Newborn; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000175:diagnosis; D012303:Ring Chromosomes