Results 171 to 180 of about 3,111 (197)

Blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES)

Acta Ophthalmologica Scandinavica, 1996
ABSTRACT The blepharophimosis‐ptosis‐epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blepharophimosis‐ptosis‐epicanthus inversus syndrome types 1 and 2), or sporadically ...
P, Strømme, F, Sandboe
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Blepharophimosis syndrome is linked to chromosome 3q

Human Molecular Genetics, 1995
Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal
K W, Small, M, Stalvey, L, Fisher, L, Mullen, C, Dickel, K, Beadles, R, Reimer, A, Lessner, K, Lewis, M A, Pericak-Vance   +9 more
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Vertical transmission of the Ohdo blepharophimosis syndrome

American Journal of Medical Genetics, 1998
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital anomalies-mental retardation syndrome composed of blepharophimosis, ptosis, dental hypoplasia, partial deafness, and mental retardation. Previously reported cases of OBS have been sporadic except for the report by Ohdo et al. [1986, J Med Genet 23:242-244] that described two affected sisters
A A, Mhanni, A J, Dawson, A E, Chudley
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Blepharophimosis syndrome: A rare disorder

Al-Basar International Journal of Ophthalmology, 2017
This report is a case of blepharophimosis syndrome in a 21-year-old male patient who presented to the outpatient department for handicapped certificate on account of poor vision. There was no history of similar occurrence in the family of the patient. The patient's vision was 6/18 in both eyes.
ChandanGovind Tiple, Nitin Tiple, Sugat Kawale, Pradhnya Rangari   +3 more
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Dominantly inherited syndromic blepharophimosis

American Journal of Medical Genetics, 1989
Cette breve analyse inventorie rapidement les manifestations de ce syndrome, manifestations oculaires et retro-oculaires (division palatine, syndactylie, hernie inguinale).
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The Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES)

Orbit, 2011
Jack Mustarde was born in Scotland in 1916 and he died in October 2010. He trained as an ophthalmologist but during active service in North Africa in the Second World War he recognised the future n...
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Two additional cases of the Ohdo blepharophimosis syndrome

American Journal of Medical Genetics, 1993
AbstractTwo additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. © 1993 Wiley‐Liss, Inc.
A, Maat-Kievit, H G, Brunner, P, Maaswinkel-Mooij   +2 more
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Blepharophimosis syndrome (the syndrome of blepharophimosis, blepharoptosis and epicanthus inversus).

Ethiopian medical journal, 1999
The syndrome of blepharophemosis, blepharoptosis and epicanthus inversus is described in a female neonate who was admitted to the Ethio-Swedish Children's Hospital (ESCH) in Jan 1996 at birth. The clinical features and mode of transmission of the syndrome is discussed.
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Congenital Alacrima in a Patient with Blepharophimosis Syndrome

Ophthalmic Genetics, 2009
To report a case of congenital alacrima in a patient with Blepharophimosis Syndrome (BPES).Case report of a 9-month-old female who presented with severe dry eyes. Further investigation revealed bilateral absence of lacrimal glands confirmed by CT.
Geetha K, Athappilly, Rebecca Sands, Braverman   +1 more
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Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

Fertility and Sterility, 2008
To describe a woman with blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism.Case report.University medical center.One 25-year-old woman.Pedigree, hormone assays, and donor embryo transfer.Pregnancy.The patient with hypergonadtropic hypogonadism obtained an ongoing pregnancy after donor embryo transfer ...
Annette L, Siewert, Quinn, Stein, Jason, Flanagan, Keith A, Hansen   +3 more
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