MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA: A SECOND EXAMPLE OF AL GAZALI-BAKALINOVA SYNDROME?

Karaer K., Rosti R. O., Torun D., Sanal H. T., Guran S.

GENETIC COUNSELING, cilt.23, sa.4, ss.457-463, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 4
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.457-463
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Macrocephaly with mziltiple epiphyseal dysplasia: a second example of ill Gazali-Bakalinova syndrome?: 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.