Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

Paolo Prontera, Daniela Rogaia, Cristina Sobacchi, Vanessa Luiza Romanelli Tavares, Giovanni Mazzotta, Maria Rita Passos-Bueno, Emilio Donti

Research output: Contribution to journalArticlepeer-review


Craniotubular dysplasias (CTD) are a heterogeneous group of genetic disorders of skeletal development, whose clinical and etiological classification is still much debated. One of the most common form is the autosomal dominant craniometaphyseal dysplasia (CMD) which is associated with mutation in the ANKH gene. In the literature a few families are reported with CMD phenotype that suggest an autosomal recessive (AR) pattern of inheritance. A candidate locus at 6q21-22 has been mapped in a large inbred Brazilian family, but the gene of the recessive form is still unknown. Our data on a female patient with CMD phenotype, born from healthy first degree cousins and displaying homozygosity for polymorphic markers at the 6q21-22 locus, further support the existence of an AR CMD, expanding its clinical spectrum to a more severe phenotype.

Original languageEnglish
Pages (from-to)1106-1108
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
Publication statusPublished - May 2011


  • 6q21-22
  • Autosomal recessive
  • Craniometaphyseal dysplasia
  • Craniotubular dysplasias
  • Phenotypic variability

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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