title: Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
abstract: Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three further cases have been reported in the literature. We report on a 23-year-old girl, with features of microform holoprosencephaly and bilateral congenital elbow dislocation in association with hypoplastic radial heads. She was identified to have a variant in the CDON gene inherited from her father who had ocular hypotelorism, but no other clinical features. We discuss the clinical features of Steinfeld syndrome, and broaden the phenotypic spectrum of this condition. Structural analysis suggests that this variant could lead to destabilisation of binding of CDON with hedgehog proteins. Further work needs to be done to confirm whether mutations in the CDON gene are the cause of Steinfeld syndrome.
authors.affiliation: Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.
authors.forename: Gabriela E
authors.initials: GE
authors.lastname: Jones
authors.affiliation: North of Scotland Clinical Genetics Service, Aberdeen, United Kingdom.
authors.forename: Lisa
authors.initials: L
authors.lastname: Robertson
authors.affiliation: Department of Radiology, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.
authors.forename: Amit
authors.initials: A
authors.lastname: Maniyar
authors.affiliation: Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: Christos
authors.initials: C
authors.lastname: Shammas
authors.affiliation: NMR Centre for Structural Biology, Institute of Integrative Biology, University of Liverpool, Liverpool, United Kingdom.
authors.forename: Marie M
authors.initials: MM
authors.lastname: Phelan
authors.affiliation: Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.
authors.forename: Pradeep C
authors.initials: PC
authors.lastname: Vasudevan
authors.affiliation: Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: George A
authors.initials: GA
authors.lastname: Tanteles
mesh_terms: D000595:Amino Acid Sequence; D001921:Brain / Q000473:pathology; D015815:Cell Adhesion Molecules / Q000737:chemistry / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D011487:Protein Conformation; D025521:Tumor Suppressor Proteins / Q000737:chemistry / Q000235:genetics; D055815:Young Adult
chemical_list: C107286:CDON protein, human; D015815:Cell Adhesion Molecules; D025521:Tumor Suppressor Proteins
keywords: CDON; Steinfeld syndrome; holoprosencephaly; radial ray defects