Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients

Am J Med Genet A. 2016 Jun;170(6):1391-9. doi: 10.1002/ajmg.a.37652. Epub 2016 Apr 13.

Abstract

Pontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. We report on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and nonprogressive PCH. In addition, the patients show hair extruding from the lactiferous ducts, which to our knowledge has not been described before. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicate an autosomal recessive pattern of inheritance as most likely. © 2016 Wiley Periodicals, Inc.

Keywords: corneal dystrophy; hairy nipples; pontocerebellar hypoplasia; scrotal/labial aplasia; underdeveloped labioscrotal folds.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / metabolism
  • Biomarkers
  • Brain / abnormalities
  • Cerebellum / abnormalities*
  • Child
  • Child, Preschool
  • Consanguinity
  • Corneal Dystrophies, Hereditary / diagnosis*
  • Developmental Disabilities / diagnosis
  • Diagnostic Imaging
  • Facies
  • Female
  • Genetic Testing
  • Humans
  • Infant
  • Male
  • Microcephaly / diagnosis*
  • Nervous System Malformations / diagnosis*
  • Pedigree
  • Phenotype*
  • Syndrome

Substances

  • Biomarkers

Supplementary concepts

  • Cerebellar Hypoplasia