Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti
IM Hayes, G Varigos, EJ Upjohn, DC Orchard, DJ Penny, R Savarirayan
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2005
We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.