Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.
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.
Hayes
Ian M
IM
Genetic Health Services Victoria, MCRI, Parkville, Australia. lizmawson67@hotmail.com
Varigos
George
G
Upjohn
Edward J
EJ
Orchard
David C
DC
Penny
Dan J
DJ
Savarirayan
Ravi
R
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000473:pathology*; D007184:Incontinentia Pigmenti / Q000473:pathology*; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping