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[Report of a case with Johanson-Blizzard syndrome and literatures review].
Zhonghua Er Ke Za Zhi. 2011 Jan; 49(1):66-9.ZE

Abstract

OBJECTIVE

To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome.

METHOD

The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed.

RESULT

A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%).

CONCLUSION

Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis.

Authors+Show Affiliations

Department of Digestive Diseases, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

chi

PubMed ID

21429315

Citation

Liu, Zhi-Feng, et al. "[Report of a Case With Johanson-Blizzard Syndrome and Literatures Review]." Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, vol. 49, no. 1, 2011, pp. 66-9.
Liu ZF, Zhang ZH, Li M, et al. [Report of a case with Johanson-Blizzard syndrome and literatures review]. Zhonghua Er Ke Za Zhi. 2011;49(1):66-9.
Liu, Z. F., Zhang, Z. H., Li, M., Jin, Y., Lian, M., & Tang, W. W. (2011). [Report of a case with Johanson-Blizzard syndrome and literatures review]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 49(1), 66-9.
Liu ZF, et al. [Report of a Case With Johanson-Blizzard Syndrome and Literatures Review]. Zhonghua Er Ke Za Zhi. 2011;49(1):66-9. PubMed PMID: 21429315.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Report of a case with Johanson-Blizzard syndrome and literatures review]. AU - Liu,Zhi-Feng, AU - Zhang,Zhi-Hua, AU - Li,Mei, AU - Jin,Yu, AU - Lian,Min, AU - Tang,Wen-Wei, PY - 2011/3/25/entrez PY - 2011/3/25/pubmed PY - 2011/11/4/medline SP - 66 EP - 9 JF - Zhonghua er ke za zhi = Chinese journal of pediatrics JO - Zhonghua Er Ke Za Zhi VL - 49 IS - 1 N2 - OBJECTIVE: To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome. METHOD: The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed. RESULT: A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%). CONCLUSION: Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis. SN - 0578-1310 UR - https://www.unboundmedicine.com/medline/citation/21429315/[Report_of_a_case_with_Johanson_Blizzard_syndrome_and_literatures_review]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0578-1310&year=2011&vol=49&issue=1&fpage=66 DB - PRIME DP - Unbound Medicine ER -