TY - JOUR
T1 - 12-Year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)
AU - Ivanovich, Jennifer
AU - Mallory, Susan
AU - Storer, Timothy
AU - Ciske, David
AU - Hing, Anne
PY - 2001/2/1
Y1 - 2001/2/1
N2 - Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.
AB - Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.
KW - Chediak-Higashi syndrome
KW - Elejalde syndrome
KW - Griscelli syndrome
UR - http://www.scopus.com/inward/record.url?scp=0035254468&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20010201)98:4<313::AID-AJMG1098>3.0.CO;2-P
DO - 10.1002/1096-8628(20010201)98:4<313::AID-AJMG1098>3.0.CO;2-P
M3 - Article
C2 - 11170073
AN - SCOPUS:0035254468
SN - 0148-7299
VL - 98
SP - 313
EP - 316
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 4
ER -