" /> De la Chapelle dysplasia - CISMeF





Preferred Label : De la Chapelle dysplasia;

ICD-11 definition : Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.;

ICD-11 synonym : Atelosteogenesis type 2;

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Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.

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24/05/2025


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