Spondyloepimetaphyseal dysplasia, Shohat type (Q88348): Difference between revisions
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Displasia congênita espondiloepimetafisária (SEMD), tipo de Shohat é uma forma de SEMD caracterizada por baixa estatura gravemente desproporcional, membros curtos, tórax pequeno, pescoço curto, lábios finos, lordose lombar grave, geno varo acentuado, frouxidão articular, abdômen distendido, hepatomegalia e esplenomegalia leves. | |||
| description / en | description / en | ||
Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterised by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. | |||
Revision as of 14:32, 15 August 2026
Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterised by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1389783101 |
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| English | Spondyloepimetaphyseal dysplasia, Shohat type |
Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterised by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. |
