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Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.
Pediatr Neurol. 2012 Mar; 46(3):189-91.PN

Abstract

Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients.

Authors+Show Affiliations

Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. drdilekcoban@yahoo.com.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22353298

Citation

Sarici, Dilek, et al. "Seckel Syndrome Accompanied By Semilobar Holoprosencephaly and Arthrogryposis." Pediatric Neurology, vol. 46, no. 3, 2012, pp. 189-91.
Sarici D, Akin MA, Kara A, et al. Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Pediatr Neurol. 2012;46(3):189-91.
Sarici, D., Akin, M. A., Kara, A., Doganay, S., & Kurtoglu, S. (2012). Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Pediatric Neurology, 46(3), 189-91. https://doi.org/10.1016/j.pediatrneurol.2012.01.002
Sarici D, et al. Seckel Syndrome Accompanied By Semilobar Holoprosencephaly and Arthrogryposis. Pediatr Neurol. 2012;46(3):189-91. PubMed PMID: 22353298.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. AU - Sarici,Dilek, AU - Akin,Mustafa Ali, AU - Kara,Ahu, AU - Doganay,Selim, AU - Kurtoglu,Selim, PY - 2011/09/08/received PY - 2012/01/03/accepted PY - 2012/2/23/entrez PY - 2012/2/23/pubmed PY - 2012/7/6/medline SP - 189 EP - 91 JF - Pediatric neurology JO - Pediatr. Neurol. VL - 46 IS - 3 N2 - Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients. SN - 1873-5150 UR - https://www.unboundmedicine.com/medline/citation/22353298/Seckel_syndrome_accompanied_by_semilobar_holoprosencephaly_and_arthrogryposis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(12)00003-3 DB - PRIME DP - Unbound Medicine ER -