Craniometaphyseal Dysplasia, Autosomal Dominant.
Reichenberger E, Chen IP.
Reichenberger E, et al.
2007 Aug 27 [updated 2020 Jun 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2007 Aug 27 [updated 2020 Jun 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301634
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CLINICAL CHARACTERISTICS: Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an i …
CLINICAL CHARACTERISTICS: Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive …