Tags

Type your tag names separated by a space and hit enter

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.
Congenit Anom (Kyoto). 2012 Dec; 52(4):216-8.CA

Abstract

Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Muscle contractions attenuate during rest or when the infant calms down. As a recently described new disease, Crisponi syndrome may be confused with epileptic manifestations. Most of the patients die in the first months of life due to hyperthermia and feeding problems. Recently, it has been demonstrated that mutations of the CRLF1 gene 'cytokine receptor-like factor 1' are associated with Crisponi syndrome. Here, we present a newborn diagnosed with Crisponi syndrome and report a novel homozygous CFRL1 gene mutation.

Authors+Show Affiliations

Department of Neonatology, Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.No affiliation info availableNo 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

23181498

Citation

Hakan, Nilay, et al. "Novel CRLF1 Gene Mutation in a Newborn Infant Diagnosed With Crisponi Syndrome." Congenital Anomalies, vol. 52, no. 4, 2012, pp. 216-8.
Hakan N, Eminoglu FT, Aydin M, et al. Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. Congenit Anom (Kyoto). 2012;52(4):216-8.
Hakan, N., Eminoglu, F. T., Aydin, M., Zenciroglu, A., Karadag, N. N., Dursun, A., Okumus, N., & Ceylaner, S. (2012). Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. Congenital Anomalies, 52(4), 216-8. https://doi.org/10.1111/j.1741-4520.2012.00360.x
Hakan N, et al. Novel CRLF1 Gene Mutation in a Newborn Infant Diagnosed With Crisponi Syndrome. Congenit Anom (Kyoto). 2012;52(4):216-8. PubMed PMID: 23181498.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. AU - Hakan,Nilay, AU - Eminoglu,Fatma Tuba, AU - Aydin,Mustafa, AU - Zenciroglu,Aysegul, AU - Karadag,Nazmiye Nilgun, AU - Dursun,Arzu, AU - Okumus,Nurullah, AU - Ceylaner,Serdar, PY - 2012/11/28/entrez PY - 2012/11/28/pubmed PY - 2013/5/3/medline SP - 216 EP - 8 JF - Congenital anomalies JO - Congenit Anom (Kyoto) VL - 52 IS - 4 N2 - Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Muscle contractions attenuate during rest or when the infant calms down. As a recently described new disease, Crisponi syndrome may be confused with epileptic manifestations. Most of the patients die in the first months of life due to hyperthermia and feeding problems. Recently, it has been demonstrated that mutations of the CRLF1 gene 'cytokine receptor-like factor 1' are associated with Crisponi syndrome. Here, we present a newborn diagnosed with Crisponi syndrome and report a novel homozygous CFRL1 gene mutation. SN - 1741-4520 UR - https://www.unboundmedicine.com/medline/citation/23181498/Novel_CRLF1_gene_mutation_in_a_newborn_infant_diagnosed_with_Crisponi_syndrome_ L2 - https://doi.org/10.1111/j.1741-4520.2012.00360.x DB - PRIME DP - Unbound Medicine ER -