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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 ...
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 ...
NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
(Wiley-Blackwell, 2014)
The Tel Hashomer camptodactyly syndrome: Report of a new case and review of the literature
(Wiley-Blackwell, 1988-02-01)
We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance ...
SPONDYLO-CAMPTODACTYLY SYNDROME - A DISTINCT AUTOSOMAL-DOMINANT ENTITY
(MUNKSGAARD INT PUBL LTD, 1995)
SPONDYLO-CAMPTODACTYLY SYNDROME - A DISTINCT AUTOSOMAL-DOMINANT ENTITY
(MUNKSGAARD INT PUBL LTD, 1995)
Guadalajara camptodactyly type III: A new probably autosomal dominant syndrome
(2002)
A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations ...
Guadalajara camptodactyly type III: A new probably autosomal dominant syndrome
(2002)
A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations ...
Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the rozin camptodactyly syndrome [3]
(2006)
[No abstract available]
Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the rozin camptodactyly syndrome [3]
(2006)
[No abstract available]