Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.
We report a child with multiple congenital abnormalities which include complex central nervous system malformations, dense bones with wide irregular metaphyses, facial dysmorphic features and lethality. We suggest that the combination of abnormalities in the child could represent a new syndrome.
al-Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Bakalinova
D
D
Bakir
M
M
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002490:Central Nervous System / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014057:Tomography, X-Ray Computed