|2.||Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
|3.||Orofaciodigital Syndromes (Orofaciodigital Syndrome)
|4.||Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
|5.||Osteogenesis Imperfecta (Lobstein Disease)
|1.||Chen, Chih-Ping: 2 articles (12/2012 - 03/2008)|
|2.||McGuire, Marianne: 1 article (09/2015)|
|3.||Zahid, Maliha: 1 article (09/2015)|
|4.||Lo, Cecilia W: 1 article (09/2015)|
|5.||Madan-Khetarpal, Suneeta: 1 article (09/2015)|
|6.||Garrod, Andrea S: 1 article (09/2015)|
|7.||Panigrahy, Ashok: 1 article (09/2015)|
|8.||Li, You: 1 article (09/2015)|
|9.||Sreedher, Gayathri: 1 article (09/2015)|
|10.||Weiner, Daniel J: 1 article (09/2015)|
09/01/2015 - "Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. "
08/01/2015 - "Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. "
05/01/2009 - "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III."
08/01/2000 - "There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum. "
08/01/2000 - "Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes."
|2.||Verma-Naumoff type Short rib-polydactyly syndromeIBA
09/01/2005 - "Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome)."
01/01/1988 - "The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations. "
08/15/2012 - "In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-polydactyly group (SRPs) that includes Verma-Naumoff syndrome (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis-van Creveld syndrome (EVC), the Sensenbrenner syndrome, and, finally, Weyers acrofacial dysostosis. "
|3.||Beemer type Short rib-polydactyly syndromeIBA
08/01/1992 - "We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. "
08/01/1992 - "It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes."
12/01/2012 - "Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib-polydactyly syndrome, Bardet-Biedl syndrome, orofaciodigital syndrome, Smith-Lemli-Opitz syndrome, and hydrolethalus syndrome."
|5.||Proteins (Proteins, Gene)IBA
|7.||Nitric Oxide (Nitrogen Monoxide)FDA Link
|8.||Folic Acid AntagonistsIBA
03/01/2008 - "This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. "
|9.||Dandy Walker cystIBA
10/01/1998 - "Clefts were most frequently observed in atelosteogenesis (88%), followed by chondrodysplasia punctata (79%), dyssegmental dysplasia (73%), Kniest dysplasia (63%) and short rib polydactyly syndrome (53%). "
10/01/1998 - "A search in the database at the International Skeletal Dysplasia Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, Kniest dysplasia and short rib polydactyly syndrome. "