Conradi–Hünermann–Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC
- Author(s): Batista, Mariana;
- Morgado, Francisca;
- Cardoso, José Carlos;
- Moreno, Ana;
- Ramos, Leonor
- et al.
Published Web Locationhttps://doi.org/10.5070/D32610050461
Conradi-Hünermann-Happle Syndrome, also called X-linked rhizomelic chondrodysplasia punctata, is a rare genodermatosis that presents with cutaneous, skeletal, and ophthalmological abnormalities. Herein, we report a full-term newborn that presented at birth with scattered blaschkolinear bands of adherent scales and scalp erosions in a spiral distribution. Genetic analysis of emopamil-binding protein gene revealed a previously undescribed heterozygous mutation of c.333delC.