Article
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Pediatrics - 1 Jun 2002
Dupuis-Girod Sophie, Corradini Nadège, Hadj-Rabia Smail, Fournet Jean-Christophe, Faivre Laurence, Le Deist Françoise, Durand Philippe, Döffinger Rainer, Smahi Asma, Israel Alain, Courtois Gilles, Brousse Nicole, Blanche Stéphane, Munnich Arnold, Fischer Alain, Casanova Jean-Laurent, Bodemer Christine
Abstract excerpt
A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic...
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