1.
Pediatr Med Chir
; 25(1): 23-5, 2003.
Article
in Italian
| MEDLINE
| ID: mdl-12920973
2.
Eur J Pediatr
; 149(7): 475-6, 1990 Apr.
Article
in English
| MEDLINE
| ID: mdl-2189730
ABSTRACT
A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.