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Occipital horn syndrome: report of a patient and review of the literature
Author(s) -
Tsukahara Masato,
Imaizumi Kiyoshi,
Kawai Shinya,
Kajii Tadashi
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb03986.x
Subject(s) - french horn , medicine , anatomy , occipital bone , genitourinary system , skull , psychology , pedagogy
We report an 18‐year‐old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. The distinctive features common to all patients were unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary abnormalities. The skeletal abnormalities included occipital horns, short, broad clavicles, deformed radii, ulnae, and humeri, narrowing of the rib cage, undercalci‐fied long bones with thin cortical walls and coxa valga. Occipital horn syndrome is inherited in an X‐linked recessive fashion. Our analysis indicates that occipital horn syndrome is associated with a recognizable characteristic phenotype.