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Conradi–Hünermann–Happle syndrome associated with severe hypocalcemia in a newborn
Conradi–Hünermann–Happle syndrome is rare X‐linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with C...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544603/ https://www.ncbi.nlm.nih.gov/pubmed/35355312 http://dx.doi.org/10.1111/pde.14979 |
Sumario: | Conradi–Hünermann–Happle syndrome is rare X‐linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with Conradi–Hünermann–Happle syndrome. |
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