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The Ohdo blepharophimosis syndrome in a Mexican boy
(1992)
The clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis ...
The Ohdo blepharophimosis syndrome in a Mexican boy
(1992)
The clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis ...
Schwartz-Jampel syndrome: An atypical form?
(1993)
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, 'mask-like' face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10-year- ...
Schwartz-Jampel syndrome: An atypical form?
(1993)
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, 'mask-like' face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10-year- ...
The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El síndrome de la "Isla de la Fantasía". Individualización de una nueva osteocondrodisplasia probablemente autosómica dominante.]
(1995)
Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous parents, presented dwarfism, peculiar facies, with blepharophimosis, mongoloid slanted eyes, abundant eyebrows and ...
The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type [El s�ndrome de la "Isla de la Fantas�a". Individualizaci�n de una nueva osteocondrodisplasia probablemente autos�mica dominante.]
(1995)
Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous parents, presented dwarfism, peculiar facies, with blepharophimosis, mongoloid slanted eyes, abundant eyebrows and ...
SED-brachydactyly and distinctive speech: Report of two new cases
(2007)
We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, ...
SED-brachydactyly and distinctive speech: Report of two new cases
(2007)
We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, ...
Second female case of Myhre syndrome
(2004)
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased ...
The global role of kidney transplantation
(2008)
We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical ...