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Oblique facial clefts in Johanson-Blizzard syndrome.
Am J Med Genet A. 2016 06; 170(6):1495-501.AJ

Abstract

Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc.

Authors+Show Affiliations

Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, México. Department of Molecular Biology and Genomics, Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, México.Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, México. Department of Molecular Biology and Genomics, Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, México. Department of Molecular Biology and Genomics, Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara, Guadalajara, Mexico.Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, México.Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Jalisco, México.Service of Pediatrics Gastroenterology, Hospital La Católica, San José, Costa Rica.Service of Endocrinology, National Childreńs Hospital, San José, Costa Rica.Department of Oral and Maxillo-Facial Surgery, University Hospital Magdeburg, Magdeburg, Germany.Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

26989884

Citation

Corona-Rivera, Jorge Román, et al. "Oblique Facial Clefts in Johanson-Blizzard Syndrome." American Journal of Medical Genetics. Part A, vol. 170, no. 6, 2016, pp. 1495-501.
Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, et al. Oblique facial clefts in Johanson-Blizzard syndrome. Am J Med Genet A. 2016;170(6):1495-501.
Corona-Rivera, J. R., Zapata-Aldana, E., Bobadilla-Morales, L., Corona-Rivera, A., Peña-Padilla, C., Solis-Hernández, E., Guzmán, C., Richmond, E., Zahl, C., Zenker, M., & Sukalo, M. (2016). Oblique facial clefts in Johanson-Blizzard syndrome. American Journal of Medical Genetics. Part A, 170(6), 1495-501. https://doi.org/10.1002/ajmg.a.37630
Corona-Rivera JR, et al. Oblique Facial Clefts in Johanson-Blizzard Syndrome. Am J Med Genet A. 2016;170(6):1495-501. PubMed PMID: 26989884.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oblique facial clefts in Johanson-Blizzard syndrome. AU - Corona-Rivera,Jorge Román, AU - Zapata-Aldana,Eugenio, AU - Bobadilla-Morales,Lucina, AU - Corona-Rivera,Alfredo, AU - Peña-Padilla,Christian, AU - Solis-Hernández,Elizabeth, AU - Guzmán,Celina, AU - Richmond,Erick, AU - Zahl,Christian, AU - Zenker,Martin, AU - Sukalo,Maja, Y1 - 2016/03/17/ PY - 2015/10/19/received PY - 2016/02/26/accepted PY - 2016/3/19/entrez PY - 2016/3/19/pubmed PY - 2017/10/25/medline KW - Tessier classification KW - UBR1 KW - cleft lip KW - cleft palate KW - oblique facial clefts SP - 1495 EP - 501 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 170 IS - 6 N2 - Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/26989884/Oblique_facial_clefts_in_Johanson_Blizzard_syndrome_ DB - PRIME DP - Unbound Medicine ER -