Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is...

Focal dermal hypoplasia or Goltz syndrome is a rare X-linked genodermatosis characterized by cutaneous and musculoskeletal defects. Dermoscopy is a noninvasive auxiliary method for the diagnosis of lesions, whether melanocytic or not. Its widespread use in dermatology is resulting in the description of new patterns and characterization of lesions not reported before its use. A typical case of G...

BACKGROUND AND PURPOSE Because of improved visualization of posterior fossa structures with MR imaging, cerebellar malformations are recognized with increasing frequency. Herein we attempt to describe and propose a rational classification of cerebellar malformations. METHODS MR images obtained in 70 patients with cerebellar malformations were retrospectively reviewed. The cerebellar malformat...

Focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X-linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations and de novo chromosome rearrangements involving Xp...

OBJECTIVE To assess heritability and mode of inheritance for hereditary equine regional dermal asthenia (HERDA) in Quarter Horses. ANIMALS 1,295 horses with Quarter Horse bloodlines, including 58 horses affected with HERDA. PROCEDURE Horses were classified as affected or unaffected or as undetermined when data were insufficient to assess phenotype. Pedigree data were analyzed to determine t...