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A. Molecular pathology
Head and neck
Limbs
Abdomen
Sacroccocygeal region
Head
Neck
Mots-clés associés à l'article
Developmental pathway
rhizomelic limbs
high forehead
thin upper lips
bronchopulmonary foregut malformations
Macroscopical lesions
congenital hydrocephalus
corpus callosum agenesis
scoliosis
rhizomelic limbs
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thin upper lips
Etiology:
Pyruvate dehydrogenase deficiency
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