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Ocular Anomalies in Seckel's Syndrome
Author(s) -
Lim K. H.,
Wong H. B.
Publication year - 1973
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1973.tb03132.x
Subject(s) - medicine , hypoplasia , coloboma , dwarfism , anatomy , pediatrics , genetics , biology , gene
Summary: Ocular anomalies in Seckel's syndrome have not been reported. A “bird‐headed” dwarf with features resembling Seckel's syndrome and with two similarly affected siblings, is described. The changes, consisting of bilateral macular coloboma and disc hypoplasia, can be expected on Seckel's hypothesis, representing a severe example of the genetic defect on the eye.