Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union

Am J Med Genet A. 2007 Dec 15;143A(24):3295-301. doi: 10.1002/ajmg.a.32019.


Here, we report a newly recognized syndrome in three siblings with occipital atretic cephalocele, striking facial anomalies, and large feet. Specific findings include occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental deficiency, prominent forehead, midface deficiency, broad nose and nasal root, grooved nasal tip, abnormal nares, narrow malformed ears, severe oligodontia, and large wide feet with a gap between the hallux and the second toe. The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Brain / pathology
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis*
  • Dandy-Walker Syndrome / diagnosis
  • Ear / abnormalities
  • Face / abnormalities*
  • Facies
  • Female
  • Foot / pathology*
  • Genes, Recessive
  • Humans
  • Intellectual Disability / diagnosis
  • Male
  • Phenotype