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A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome
(Lippincott Williams & WilkinsPhiladelphiaEUA, 2000)
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
(WILEY-LISS, 2008)
We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence ...
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
(Wiley-liss, 2008-08-15)
We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence ...
NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
(Wiley-Blackwell, 1994-01-15)
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these ...
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
(Wiley-liss, 2008-08-15)
We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence ...
NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
(Wiley-Blackwell, 1994-01-15)
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these ...
A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
(ELSEVIER SCIENCE INC, 2010)
Objective: To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. Design: Case report. Setting: University medical ...
NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
(Wiley-Blackwell, 2014)
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
(Wiley-liss, 2014)