TY - JOUR
T1 - Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities
AU - Duker, J. S.
AU - Weiss, J. S.
AU - Siber, M.
AU - Bieber, F. R.
AU - Albert, D. M.
N1 - Funding Information:
From Harvard Medical School, Massachusetts Eye and Ear Infirmary (Drs. Duker, Weiss, and Albert); Tufts-New England Medical Center (Dr. Siber); and the Brigham and Women's Hospital and Massachusetts General Hospital (Dr. Bieber), Boston, Massachusetts. This study was supported in part by research grants EY01917 and 5T32GM07748 from the National Institutes of Health.
PY - 1985
Y1 - 1985
N2 - We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadias, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.
AB - We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadias, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic nerve hypoplasia, and congenital blepharoptosis. In case 4, a female twin who died in utero (at 15 weeks' gestation) showed none of the ocular abnormalities.
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U2 - 10.1016/S0002-9394(14)75866-0
DO - 10.1016/S0002-9394(14)75866-0
M3 - Article
C2 - 3917610
AN - SCOPUS:0021931922
SN - 0002-9394
VL - 99
SP - 51
EP - 55
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 1
ER -