Macrocephaly with multiple epiphyseal dysplasia: A second example of Al Gazali-Bakalinova syndrome?
Genetic Counseling, cilt.23, sa.4, ss.457-463, 2012 (SCI-Expanded, Scopus)
- 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
- Anahtar Kelimeler: Macrocephaly, Multiple Epiphyseal Dysplasia
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.