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The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Am J Med Genet A. 2019 06; 179(6):1063-1068.AJ

Abstract

We evaluated a newborn with acrofacial dysostosis in whom a clinical diagnosis of Nager syndrome was entertained. Radiographs revealed hypoplasia of the scapulae and bilateral humeroradial synostosis, with absent ulna on the left and hypoplastic ulna on the right. The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses. Humeroradial synostosis has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by mandibular hypoplasia, upper and lower extremity phocomelia, and oligodactyly of the upper limbs. More recently, haploinsufficiency of the SF3B4 gene has been identified as the cause of both Nager and Rodriguez syndrome, leading many to believe that Rodriguez syndrome represents a more severe end of a Nager syndrome spectrum. An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. Rodriguez syndrome was previously thought of as a lethal acrofacial dysostosis distinct from Nager syndrome. A number of more mild cases, as well as our case, intermediate between the two phenotypes, illustrate that Rodriguez syndrome is a severe manifestation of Nager syndrome, and is not lethal with aggressive medical care.

Authors+Show Affiliations

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

30924273

Citation

Drivas, Theodore G., et al. "The Final Demise of Rodriguez Lethal Acrofacial Dysostosis: a Case Report and Review of the Literature." American Journal of Medical Genetics. Part A, vol. 179, no. 6, 2019, pp. 1063-1068.
Drivas TG, Taylor JA, Zackai EH. The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. Am J Med Genet A. 2019;179(6):1063-1068.
Drivas, T. G., Taylor, J. A., & Zackai, E. H. (2019). The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. American Journal of Medical Genetics. Part A, 179(6), 1063-1068. https://doi.org/10.1002/ajmg.a.61121
Drivas TG, Taylor JA, Zackai EH. The Final Demise of Rodriguez Lethal Acrofacial Dysostosis: a Case Report and Review of the Literature. Am J Med Genet A. 2019;179(6):1063-1068. PubMed PMID: 30924273.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. AU - Drivas,Theodore G, AU - Taylor,Jesse A, AU - Zackai,Elaine H, Y1 - 2019/03/28/ PY - 2018/12/06/received PY - 2019/02/04/revised PY - 2019/02/25/accepted PY - 2019/3/30/pubmed PY - 2020/6/11/medline PY - 2019/3/30/entrez KW - Nager syndrome KW - Rodriguez syndrome KW - clinical genetics KW - radiohumeral synostosis SP - 1063 EP - 1068 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 179 IS - 6 N2 - We evaluated a newborn with acrofacial dysostosis in whom a clinical diagnosis of Nager syndrome was entertained. Radiographs revealed hypoplasia of the scapulae and bilateral humeroradial synostosis, with absent ulna on the left and hypoplastic ulna on the right. The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses. Humeroradial synostosis has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by mandibular hypoplasia, upper and lower extremity phocomelia, and oligodactyly of the upper limbs. More recently, haploinsufficiency of the SF3B4 gene has been identified as the cause of both Nager and Rodriguez syndrome, leading many to believe that Rodriguez syndrome represents a more severe end of a Nager syndrome spectrum. An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. Rodriguez syndrome was previously thought of as a lethal acrofacial dysostosis distinct from Nager syndrome. A number of more mild cases, as well as our case, intermediate between the two phenotypes, illustrate that Rodriguez syndrome is a severe manifestation of Nager syndrome, and is not lethal with aggressive medical care. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/30924273/The_final_demise_of_Rodriguez_lethal_acrofacial_dysostosis:_A_case_report_and_review_of_the_literature_ L2 - https://doi.org/10.1002/ajmg.a.61121 DB - PRIME DP - Unbound Medicine ER -