Spondyloepiphyseal dysplasia, Cantu type (Q88343): Difference between revisions
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Displasia espondiloepifisária, tipo Cantu é um tipo extremamente raro de displasia espondiloepifisária descrita em cerca de 5 pacientes até o momento e caracterizada por sinais clínicos incluindo baixa estatura, fácies peculiar com blefarofimose, olhos inclinados para cima, sobrancelhas e cílios abundantes, voz rouca e mãos e pés curtos (braquimetacarpia, braquimetatarsia e braquifalangia). | |||
| description / en | description / en | ||
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). | |||
Revision as of 14:32, 15 August 2026
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
| Language | Label | Description | Also known as |
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| default for all languages | ID_897226700 |
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| English | Spondyloepiphyseal dysplasia, Cantu type |
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). |
