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  1. Article ; Online: Bilateral oblique facial clefts and extremity anomaly in an infant after intrauterine efavirenz exposure and review of its teratogenic risk.

    Shanske, Alan L

    AIDS (London, England)

    2012  Volume 26, Issue 14, Page(s) 1775–1779

    Abstract: Objective: Congenital anomalies may be caused by genetic or environmental factors or a combination of both. Oblique facial clefts are very rare congenital deformities. The occurrence of facial clefts and an extremity anomaly suggests a common underlying ...

    Abstract Objective: Congenital anomalies may be caused by genetic or environmental factors or a combination of both. Oblique facial clefts are very rare congenital deformities. The occurrence of facial clefts and an extremity anomaly suggests a common underlying cause. Lateral oro-ocular clefts do not occur along normal developmental planes and may be part of the amnion disruption complex sequence. Our objective was to report a case of this very event, which also followed an unusual intrauterine exposure and review the literature on the teratogenic risk of efavirenz.
    Study design: We report a case of amniotic rupture sequence after fetal HIV and antiretroviral exposure.
    Result: Teratogenic exposure has been rarely reported and never after antiretroviral exposure.
    Conclusion: By reporting and registering more cases, we will be able to better assess the risks such medications pose to the developing fetus. The publication of a single case report has the potential to contribute to our knowledge of the significance of prenatal exposure to antiretrovirals and other medications for common HIV-associated disorders. It also generates a hypothesis that can be tested with further clinical data, animal models and epidemiologic studies.
    MeSH term(s) Abnormalities, Drug-Induced/diagnostic imaging ; Abnormalities, Drug-Induced/etiology ; Abnormalities, Drug-Induced/surgery ; Acquired Immunodeficiency Syndrome/drug therapy ; Adult ; Anti-HIV Agents/administration & dosage ; Anti-HIV Agents/adverse effects ; Benzoxazines/administration & dosage ; Benzoxazines/adverse effects ; Child of Impaired Parents ; Cleft Palate/chemically induced ; Cleft Palate/diagnostic imaging ; Cleft Palate/surgery ; Craniofacial Dysostosis/chemically induced ; Craniofacial Dysostosis/diagnostic imaging ; Craniofacial Dysostosis/surgery ; Eye Abnormalities/chemically induced ; Eye Abnormalities/diagnostic imaging ; Eye Abnormalities/surgery ; Female ; Humans ; Imaging, Three-Dimensional ; Infant ; Infant, Newborn ; Maxillofacial Abnormalities/chemically induced ; Maxillofacial Abnormalities/diagnostic imaging ; Maxillofacial Abnormalities/surgery ; Pregnancy ; Prenatal Exposure Delayed Effects ; Radiography ; Teratogens
    Chemical Substances Anti-HIV Agents ; Benzoxazines ; Teratogens ; efavirenz (JE6H2O27P8)
    Language English
    Publishing date 2012-09-10
    Publishing country England
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 639076-6
    ISSN 1473-5571 ; 0269-9370 ; 1350-2840
    ISSN (online) 1473-5571
    ISSN 0269-9370 ; 1350-2840
    DOI 10.1097/QAD.0b013e328356467a
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Introductory comments on special section-new developments in craniofacial biology: putting on a happy face.

    Shanske, Alan L

    American journal of medical genetics. Part A

    2010  Volume 152A, Issue 12, Page(s) 2943–2946

    Abstract: Approximately three quarters of children with birth defects have anomalies that affect the craniofacial structures. Defects in this area of the body result in lifelong disability, major challenges to families and society and often a serious effect on ... ...

    Abstract Approximately three quarters of children with birth defects have anomalies that affect the craniofacial structures. Defects in this area of the body result in lifelong disability, major challenges to families and society and often a serious effect on life expectancy. Surgery has been the primary intervention for these disorders, with frequently less than optimal outcomes and risk for additional morbidity and mortality. The challenge for clinicians caring for these children is to develop new methods for the treatment and prevention of these disorders. An understanding of the evolution of the head and the finely tuned temporospatial signaling pathways involved is critical to understanding the origins of the vertebrates as well as of human craniofacial malformations. In the future, these new approaches will be based upon our enhanced understanding of the developmental tool kit fashioned by evolution and the application of this knowledge toward the development of new diagnostic, pharmacologic, and genetic interventions for these disorders.
    MeSH term(s) Animals ; Biological Evolution ; Child ; Craniofacial Abnormalities/embryology ; Craniofacial Abnormalities/prevention & control ; Humans ; Vertebrates/embryology
    Language English
    Publishing date 2010-08-26
    Publishing country United States
    Document type Introductory Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33614
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Trisomy 18 in a second 20-year-old woman.

    Shanske, Alan L

    American journal of medical genetics. Part A

    2006  Volume 140, Issue 9, Page(s) 966–967

    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adult ; Chromosomes, Human, Pair 18/genetics ; Fatal Outcome ; Female ; Humans ; Karyotyping ; Tetralogy of Fallot/pathology ; Trisomy ; Wilms Tumor/pathology
    Language English
    Publishing date 2006-03-31
    Publishing country United States
    Document type Case Reports ; Comment ; Letter
    ZDB-ID 2108614-X
    ISSN 1552-4825
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.31171
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Mosaicism in Marshall syndrome.

    Ala-Kokko, Leena / Shanske, Alan L

    American journal of medical genetics. Part A

    2009  Volume 149A, Issue 6, Page(s) 1327–1330

    MeSH term(s) Child, Preschool ; Chromosome Disorders/genetics ; Ectodermal Dysplasia/genetics ; Humans ; Male ; Mosaicism ; Syndrome
    Language English
    Publishing date 2009-05-16
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.32873
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Mesiodens, a new microform of holoprosencephaly?

    Chan, Man Yee / Shifteh, Keivan / Shanske, Alan L

    American journal of medical genetics. Part A

    2009  Volume 149A, Issue 2, Page(s) 268–271

    MeSH term(s) Adult ; Family Health ; Holoprosencephaly/etiology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mothers ; Tooth, Supernumerary/classification ; Tooth, Supernumerary/etiology
    Language English
    Publishing date 2009-01-22
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.32604
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Letter to the editor: Hidden pituitary gland: implications for assessment.

    Paroder, Viktoriya / Miller, Todd / Shanske, Alan L / Shiota, Kohei / Khan, Muhammad Naeem / Cohen, M Michael

    American journal of medical genetics. Part A

    2013  Volume 161A, Issue 3, Page(s) 630–631

    MeSH term(s) Abnormalities, Multiple/diagnosis ; Female ; Humans ; Infant, Newborn ; Musculoskeletal Abnormalities/diagnosis ; Pituitary Gland/abnormalities
    Language English
    Publishing date 2013-02-07
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.35880
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Sacral appendage in a child with an FGFR2 mutation: a report and review.

    Shanske, Alan L / Staffenberg, David / Goodrich, James T

    American journal of medical genetics. Part A

    2008  Volume 146A, Issue 16, Page(s) 2172–2175

    MeSH term(s) Craniofacial Dysostosis/genetics ; Craniosynostoses/genetics ; Humans ; Infant ; Male ; Mutation ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Sacrum/abnormalities ; Tomography, X-Ray Computed
    Chemical Substances Receptor, Fibroblast Growth Factor, Type 2 (EC 2.7.10.1)
    Language English
    Publishing date 2008-07-16
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.32436
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Mosaic trisomy of a small r(1) with an abnormal phenotype.

    Shanske, Alan L / Marion, Robert W

    American journal of medical genetics

    2002  Volume 110, Issue 4, Page(s) 413; author reply 414

    MeSH term(s) Chromosomes, Human, Pair 1/genetics ; Humans ; Male ; Mosaicism ; Phenotype ; Ring Chromosomes ; Trisomy
    Language English
    Publishing date 2002-07-15
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 133387-2
    ISSN 0148-7299
    ISSN 0148-7299
    DOI 10.1002/ajmg.10482
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Germline mosacism in Shprintzen-Goldberg syndrome.

    Shanske, Alan L / Goodrich, James T / Ala-Kokko, Leena / Baker, Stuart / Frederick, Barbara / Levy, Brynn

    American journal of medical genetics. Part A

    2012  Volume 158A, Issue 7, Page(s) 1574–1578

    Abstract: We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has ... ...

    Abstract We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS.
    MeSH term(s) Arachnodactyly/genetics ; Craniosynostoses/genetics ; Facies ; Female ; Fibrillins ; Germ-Line Mutation ; Humans ; Infant ; Male ; Marfan Syndrome/genetics ; Microfilament Proteins/genetics ; Mosaicism ; Phenotype
    Chemical Substances Fibrillins ; Microfilament Proteins
    Language English
    Publishing date 2012-05-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.35388
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.

    Shanske, Alan L / Bernstein, Larry / Herzog, Ronit

    Pediatrics

    2007  Volume 120, Issue 2, Page(s) e436–41

    Abstract: Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A ...

    Abstract Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A distinctive biochemical profile is characteristic for each of the several defects of peroxisomal metabolism. Recently, cases have been described that were not associated with peroxisomal dysfunction. These cases were found to be secondary to teratogen exposure or maternal conditions. Since 1993, there have been 9 reported cases of neonates with rhizomelic chondrodysplasia punctata who were born to mothers with connective tissue disease. We followed a newborn boy with features suggestive of rhizomelic chondrodysplasia punctata whose biochemical studies failed to demonstrate a defect in either plasmalogen or cholesterol biosynthesis. His mother developed systemic lupus erythematosus 8 months after delivery. This case is compared with the previously reported 9 cases from the literature and is instructive in demonstrating a lesser known effect of maternal autoantibodies on the fetus.
    MeSH term(s) Adult ; Chondrodysplasia Punctata, Rhizomelic/diagnosis ; Chondrodysplasia Punctata, Rhizomelic/genetics ; Chondrodysplasia Punctata, Rhizomelic/immunology ; Diagnosis, Differential ; Female ; Humans ; Infant, Newborn ; Lupus Erythematosus, Systemic/complications ; Lupus Erythematosus, Systemic/diagnosis ; Lupus Erythematosus, Systemic/immunology ; Male ; Middle Aged ; Pregnancy ; Prenatal Exposure Delayed Effects/diagnosis ; Prenatal Exposure Delayed Effects/etiology ; Prenatal Exposure Delayed Effects/immunology
    Language English
    Publishing date 2007-08
    Publishing country United States
    Document type Case Reports ; Comparative Study ; Journal Article ; Review
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2006-2997
    Database MEDical Literature Analysis and Retrieval System OnLINE

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