Conradi–Hünermann–Happle syndrome associated with severe hypocalcemia in a newborn

Morgan Dykman; Lindsey Marie Voller; Christina Boull

doi:10.1111/pde.14979

Conradi–Hünermann–Happle syndrome associated with severe hypocalcemia in a newborn

Morgan Dykman, Lindsey Marie Voller, Christina Boull

Dermatology

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English (US)
Pages (from-to)	657-658
Number of pages	2
Journal	Pediatric Dermatology
Volume	39
Issue number	4
DOIs	https://doi.org/10.1111/pde.14979
State	Published - Jul 1 2022

Bibliographical note

Funding Information:
We gratefully acknowledge support from the Boeing Company and the National Science Foundation Grants DMI-9900108 (GOALI) andCMS-9625161 (CAREER).

Publisher Copyright:
© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.

Keywords

genetic diseases/mechanisms
genodermatoses

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10.1111/pde.14979

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title = "Conradi–H{\"u}nermann–Happle syndrome associated with severe hypocalcemia in a newborn",

abstract = "Conradi–H{\"u}nermann–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–H{\"u}nermann–Happle syndrome.",

keywords = "genetic diseases/mechanisms, genodermatoses",

author = "Morgan Dykman and Voller, {Lindsey Marie} and Christina Boull",

note = "Funding Information: We gratefully acknowledge support from the Boeing Company and the National Science Foundation Grants DMI-9900108 (GOALI) andCMS-9625161 (CAREER). Publisher Copyright: {\textcopyright} 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.",

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AU - Voller, Lindsey Marie

AU - Boull, Christina

N1 - Funding Information: We gratefully acknowledge support from the Boeing Company and the National Science Foundation Grants DMI-9900108 (GOALI) andCMS-9625161 (CAREER). Publisher Copyright: © 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.

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N2 - 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.

AB - 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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KW - genodermatoses

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JO - Pediatric Dermatology

JF - Pediatric Dermatology

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ER -

Conradi–Hünermann–Happle syndrome associated with severe hypocalcemia in a newborn

Abstract

Bibliographical note

Keywords

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