[Aspects of Greig cephalopolysyndactyly syndrome in a patient with 7pl3pl5 deletion]

ABSTRACT

A 1-month-old infant with some aspects of Greig cephalopolysyndactyly syndrome [GCPS] and additional features is described. High-resolution chromosomal analysis showed a de novo interstitial deletion of chromosome 7p with breakpoints located at p13 and p15. Our case has some additional features of GCP syndrome, such a cleft palate, narrow auditory canal, umbilical hernia, inguinal hernia, hirsutism, sacral dimple and small skin tag above natal cleft. Frontal bossing, macrocephaly, and high forehead, features associated with GCP was absent in our patient. Hirsutism has been previously reported in only 5 patients with 5p13 deletion. Based on those cases, it has been suggested that the responsible gene might be located in that region. Our patient gives further evidence of this hypothesis: