title: Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
abstract: The acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis. Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial dysostosis. Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12-q21 were found to be responsible for a subset of sporadic and autosomal dominant cases. We present a female infant born to consanguineous parents with craniofacial features resembling Nager syndrome and a unilateral preaxial limb malformation. Mutation analysis of coding exons of SF3B4 did not identify any mutations. This couple also had a deceased child who had similar clinical features. We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome.
authors.affiliation: Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.
authors.forename: Banu Guzel
authors.initials: BG
authors.lastname: Nur
authors.forename: Francois P
authors.initials: FP
authors.lastname: Bernier
authors.forename: Osman
authors.initials: O
authors.lastname: Oztekin
authors.forename: Fırat
authors.initials: F
authors.lastname: Kardelen
authors.forename: Salih
authors.initials: S
authors.lastname: Kalay
authors.forename: Jillian S
authors.initials: JS
authors.lastname: Parboosingh
authors.forename: Ercan
authors.initials: E
authors.lastname: Mihci
mesh_terms: D003241:Consanguinity; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
keywords: Nager syndrome; acrofacial dysostosis; preaxial limb malformations; prenatal diagnosis; tracheostomy