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Pediatr Dermatol ; 39(4): 657-658, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35355312

ABSTRACT

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.


Subject(s)
Chondrodysplasia Punctata , Hypocalcemia , Chondrodysplasia Punctata/complications , Chondrodysplasia Punctata/diagnosis , Chondrodysplasia Punctata/genetics , Humans , Hypocalcemia/complications , Hypocalcemia/diagnosis , Hypocalcemia/drug therapy , Infant , Infant, Newborn
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