title: Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
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.
authors: Osmangazi University, School of Medicine, Department of Medical Genetics, Eskişehir, Turkey. kadrikaraer@yahoo.com
authors: K
authors: K
authors: Karaer
authors: R O
authors: RO
authors: Rosti
authors: D
authors: D
authors: Torun
authors: H T
authors: HT
authors: Sanal
authors: S
authors: S
authors: Guran
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000869:Anterior Eye Segment / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D019066:Facies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006618:Hip Dislocation, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D058627:Megalencephaly / Q000175:diagnosis* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics