title: A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
abstract: A newborn presented to genetics with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. The patient survived for 8 months before succumbing to respiratory failure. Exome sequencing revealed a compound heterozygous mutation in theB3GALT6gene. Mutations in this gene have been associated with both Ehlers- Danlos syndrome, progeroid type 2 and spondyloepimetaphyseal dysplasia with joint laxity type 1. These diagnoses encompass the skeletal and joint findings. Our patient expands the phenotype of these diagnoses, as anterior segment eye anomalies have not been described with either syndrome, and he is much more profoundly affected. Interestingly, our patient fits the description of a rare genetic disease referred to as Al-Gazali syndrome, for which the genetic cause is unknown.
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. Electronic address: EASellars@uams.edu.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Sellars
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Bosanko
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Lepard
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Garnica
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.
authors.forename: Gerald Bradley
authors.initials: GB
authors.lastname: Schaefer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities; D003315:Cornea / Q000002:abnormalities*; D003316:Corneal Diseases / Q000235:genetics*; D017809:Fatal Outcome; D005700:Galactosyltransferases / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*
chemical_list: C425302:B3GALT6 protein, human; D005700:Galactosyltransferases