Results 161 to 170 of about 1,143,678 (194)
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Schwartz syndrome: Myotonia with blepharophimosis and limitation of joints
The Journal of Pediatrics, 1972A family is repor ted in which four chi ldren of the same fa ther and two unre la ted mothers are affected with congenital hypoplast ic anemia. This fur ther supports an autosomal dominan t mode of inher i tance of this disorder. T h e fa ther and the younger two siblings have elevated concentrat ions of hemoglobin F.
M, Saadat, H, Mokfi, H, Vakil, M, Ziai
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A dominantly inherited congenital anomaly syndrome with blepharophimosis
The Journal of Pediatrics, 1979biopsy results from one patient showed no accumulation of zinc in the mucosa?' suggesting that cellular egress is normal. The zinc deficiency state is readily corrected by oral administrat ion of zinc salts or by feeding human milk. The therapeutic effect of the latter is thought to be due to the presence o f a ZBL which enhances cellular uptake.
S M, Pueschel, G, Barsel-Bowers
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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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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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Dominantly inherited syndromic blepharophimosis
American Journal of Medical Genetics, 1989Cette 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, 2011Jack 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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Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?
American Journal of Medical Genetics Part A, 2006AbstractWe report on a patient with blepharophimosis who after unsuccessful surgery developed progressive corneal vascularization. The patient had conductive hearing loss, acroosteolysis of the phalanges, arthropathy, loss of subcutaneous fat of the hands, feet and face, and oligospermia. He had had spontaneous pneumothorax four times. We have found no
Mette, Warburg +8 more
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FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)
Translational Research, 2011Blepharophimosis syndrome (BPES) is a rare, autosomal dominant disease. Two clinical types of BPES have been distinguished. In BPES type I, an eyelid malformation is associated with infertility in affected females as a result of premature ovarian failure. In BPES type II, eyelid anomalies alone are observed. Mutations of FOXL2, which is a gene encoding
Jia-Yan, Fan +5 more
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Atypical Blepharophimosis Syndrome
Ophthalmology, 2007Thabit, Mustafa, Kimia, Ziahosseini
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Surgical Repair of the Syndrome of Epicanthus Inversus, Blepharophimosis and Ptosis
Archives of Ophthalmology, 1964The congenital anomaly of epicanthus inversus, blepharophimosis, and ptosis may occur sporadically, but it is a dominant characteristic in some families. I have seen several families in which we have been unable to trace the condition back from the generation in which it first appeared, but the majority of the offspring of this first generation have ...
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Blepharophimosis‐ptosis‐epicanthus inversus syndrome
Pediatrics International, 2011Carla, Graziadio +8 more
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