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OEIS complex associated with chromosome 1p36 deletion: a case report and review.

Abstract

OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal anomalies. In addition, OEIS complex has been observed in association with environmental exposures, twinning, and in vitro fertilization. Monosomy 1p36 is the most common terminal deletion syndrome, with a prevalence of 1 in 5,000 newborns. It is characterized by specific facial features, developmental delay, and heart, skeletal, genitourinary, and neurological defects. We describe an infant with OEIS complex and 1p36 deletion who had features of both disorders, including omphalocele, cloacal exstrophy, imperforate anus, sacral multiple segmentation, renal malposition and malrotation, genital anomalies, diastasis of the symphysis pubis, microbrachycephaly, large anterior fontanel, cardiac septal defects, rib fusion, a limb deformity, developmental delay, and typical facial features. Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion.

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  • Authors+Show Affiliations

    ,

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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    Source

    MeSH

    Abnormalities, Multiple
    Anus, Imperforate
    Bladder Exstrophy
    Chromosome Deletion
    Chromosome Disorders
    Chromosomes, Human, Pair 1
    Cloaca
    Female
    Hernia, Umbilical
    Humans
    In Situ Hybridization, Fluorescence
    Infant
    Karyotyping
    Prognosis
    Spine

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    20101692

    Citation

    El-Hattab, Ayman W., et al. "OEIS Complex Associated With Chromosome 1p36 Deletion: a Case Report and Review." American Journal of Medical Genetics. Part A, vol. 152A, no. 2, 2010, pp. 504-11.
    El-Hattab AW, Skorupski JC, Hsieh MH, et al. OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010;152A(2):504-11.
    El-Hattab, A. W., Skorupski, J. C., Hsieh, M. H., Breman, A. M., Patel, A., Cheung, S. W., & Craigen, W. J. (2010). OEIS complex associated with chromosome 1p36 deletion: a case report and review. American Journal of Medical Genetics. Part A, 152A(2), pp. 504-11. doi:10.1002/ajmg.a.33226.
    El-Hattab AW, et al. OEIS Complex Associated With Chromosome 1p36 Deletion: a Case Report and Review. Am J Med Genet A. 2010;152A(2):504-11. PubMed PMID: 20101692.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - OEIS complex associated with chromosome 1p36 deletion: a case report and review. AU - El-Hattab,Ayman W, AU - Skorupski,Josh C, AU - Hsieh,Michael H, AU - Breman,Amy M, AU - Patel,Ankita, AU - Cheung,Sau Wai, AU - Craigen,William J, PY - 2010/1/27/entrez PY - 2010/1/27/pubmed PY - 2010/4/3/medline SP - 504 EP - 11 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 152A IS - 2 N2 - OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal anomalies. In addition, OEIS complex has been observed in association with environmental exposures, twinning, and in vitro fertilization. Monosomy 1p36 is the most common terminal deletion syndrome, with a prevalence of 1 in 5,000 newborns. It is characterized by specific facial features, developmental delay, and heart, skeletal, genitourinary, and neurological defects. We describe an infant with OEIS complex and 1p36 deletion who had features of both disorders, including omphalocele, cloacal exstrophy, imperforate anus, sacral multiple segmentation, renal malposition and malrotation, genital anomalies, diastasis of the symphysis pubis, microbrachycephaly, large anterior fontanel, cardiac septal defects, rib fusion, a limb deformity, developmental delay, and typical facial features. Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/20101692/OEIS_complex_associated_with_chromosome_1p36_deletion:_a_case_report_and_review_ L2 - https://doi.org/10.1002/ajmg.a.33226 DB - PRIME DP - Unbound Medicine ER -