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Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus *
Author(s) -
Lowry R. B.,
Wood B. J.
Publication year - 1975
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.1399-0004.1975.tb01502.x
Subject(s) - microcephaly , short stature , nystagmus , medicine , dysplasia , anatomy , pediatrics , audiology
This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X‐linked, or autosomal recessive in origin.