Lethal restrictive dermopathy (Q94225): Difference between revisions
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Síndrome de contratura cutânea retesada letal é uma síndrome hereditária caracterizada pela pele ser firmemente esticada sobre o rosto, causando nariz estreito e comprimido, boca pequena, mobilidade mandibular limitada, e entrópio. Observa-se retardo de crescimento intrauterino grave e constante, bem como múltiplas contraturas articulares, e a pele rígida e tensa é facilmente erodida com fissuras na axila e no pescoço. As principais manifestações são o resultado de movimentos intra-útero restritos secundários à pele defeituosa. | |||
| description / en | description / en | ||
Lethal tight skin contracture syndrome is an inherited syndrome characterised by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. The major manifestations are the result of restricted in utero movements secondary to defective skin. | |||
Revision as of 09:21, 16 August 2026
Lethal tight skin contracture syndrome is an inherited syndrome characterised by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. The major manifestations are the result of restricted in utero movements secondary to defective skin.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_713433700 |
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| English | Lethal restrictive dermopathy |
Lethal tight skin contracture syndrome is an inherited syndrome characterised by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. The major manifestations are the result of restricted in utero movements secondary to defective skin. |
