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Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti
Author(s) -
Hayes Ian M.,
Varigos George,
Upjohn Edward J.,
Orchard David C.,
Penny Dan J.,
Savarirayan Ravi
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30698
Subject(s) - incontinentia pigmenti , girl , pulmonary hypertension , medicine , pediatrics , dermatology , cardiology , genetics , biology
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 [Triki et al., 1992; Miteva et al., 2001]. 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. © 2005 Wiley‐Liss, Inc.