Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?

Genet Couns. 2012;23(4):457-63.

Abstract

Four individuals from one consanguineous family affected with macrocephaly, multiple epiphyseal dysplasia and distinctive facies were presented by Al Gazali and Bakalinova in 1998 (1) as a distinct clinical entity. To the best of our knowledge, no other similarly affected family has been presented in the literature. Here, we present an affected macrocephalic male, from a consanguineous family, with facial anomalies, cranial MRI findings and multiple epiphyseal dysplasia findings. We believe this is the second family with a similar clinical spectrum and the same inheritance pattern as those of the family presented by Al Gazali and Bakalinova. Pectus carinatum, hip dislocation and a history of prenatal polyhydramnios have been noted as additional findings in our patient.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Anterior Eye Segment / abnormalities
  • Bone and Bones / abnormalities
  • Brain / pathology
  • Child, Preschool
  • Consanguinity*
  • Facies
  • Genetic Predisposition to Disease / genetics
  • Hip Dislocation, Congenital / complications
  • Hip Dislocation, Congenital / diagnosis
  • Hip Dislocation, Congenital / genetics
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Megalencephaly / diagnosis*
  • Megalencephaly / genetics
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics

Supplementary concepts

  • Al-Gazali Syndrome