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Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
Am J Med Genet A. 2013 Sep; 161A(9):2311-5.AJ

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+Show Affiliations

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23913624

Citation

Nur, Banu Guzel, et al. "Possible Autosomal Recessive Inheritance in an Infant With Acrofacial Dysostosis Similar to Nager Syndrome." American Journal of Medical Genetics. Part A, vol. 161A, no. 9, 2013, pp. 2311-5.
Nur BG, Bernier FP, Oztekin O, et al. Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. Am J Med Genet A. 2013;161A(9):2311-5.
Nur, B. G., Bernier, F. P., Oztekin, O., Kardelen, F., Kalay, S., Parboosingh, J. S., & Mihci, E. (2013). Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. American Journal of Medical Genetics. Part A, 161A(9), 2311-5. https://doi.org/10.1002/ajmg.a.36051
Nur BG, et al. Possible Autosomal Recessive Inheritance in an Infant With Acrofacial Dysostosis Similar to Nager Syndrome. Am J Med Genet A. 2013;161A(9):2311-5. PubMed PMID: 23913624.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. AU - Nur,Banu Guzel, AU - Bernier,Francois P, AU - Oztekin,Osman, AU - Kardelen,Fırat, AU - Kalay,Salih, AU - Parboosingh,Jillian S, AU - Mihci,Ercan, Y1 - 2013/08/02/ PY - 2012/07/12/received PY - 2013/04/25/accepted PY - 2013/8/6/entrez PY - 2013/8/6/pubmed PY - 2014/3/29/medline KW - Nager syndrome KW - acrofacial dysostosis KW - preaxial limb malformations KW - prenatal diagnosis KW - tracheostomy SP - 2311 EP - 5 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 161A IS - 9 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/23913624/Possible_autosomal_recessive_inheritance_in_an_infant_with_acrofacial_dysostosis_similar_to_Nager_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.36051 DB - PRIME DP - Unbound Medicine ER -