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. 2023 May-Jun;40(3):580-581.
doi: 10.1111/pde.15256. Epub 2023 Feb 15.

Urogenital presentation of a male patient with focal dermal hypoplasia

Khoa Nguyen  1 , Valentina Sosa  1
Affiliations

Urogenital presentation of a male patient with focal dermal hypoplasia

Khoa Nguyen et al. Pediatr Dermatol. 2023 May-Jun.

Abstract

Focal dermal hypoplasia (FDH) is a rare X-linked dominant syndrome characterized by streaky cutaneous atrophy in a blaschkoid distribution, skeletal dysplasias, and ocular abnormalities. Here, we report hypospadias and chordee identified in a male patient with molecularly confirmed FDH. This report highlights a new clinical manifestation of male patients with FDH.

Keywords: focal dermal hypoplasia Goltz male hypospadias.

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References

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