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SED-brachydactyly and distinctive speech: report of two new cases.
Genet Couns. 2007; 18(1):85-97.GC

Abstract

We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis. The clinical and radiological features present in mother and son suggest a probable autosomal dominant mode of inheritance and variable expressivity.

Authors+Show Affiliations

García-Cruz D
Instituto de Genética Humana "Dr. Enrique Corona Rivera", Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, México. dianagarc@prodigy.net.mx
Zafra de la Rosa GF
No affiliation info available
Sánchez-Corona J
No affiliation info available
Nazará Z
No affiliation info available
López-Cardona MG
No affiliation info available
García-Ortiz JE
No affiliation info available
Corona-Rivera JR
No affiliation info available
Cantú JM
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultChild, PreschoolDwarfismFaciesFemaleFingersGenetic Diseases, X-LinkedHairHumansMaleSpeech DisordersSyndromeToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17515304

Citation

García-Cruz, D, et al. "SED-brachydactyly and Distinctive Speech: Report of Two New Cases." Genetic Counseling (Geneva, Switzerland), vol. 18, no. 1, 2007, pp. 85-97.
García-Cruz D, Zafra de la Rosa GF, Sánchez-Corona J, et al. SED-brachydactyly and distinctive speech: report of two new cases. Genet Couns. 2007;18(1):85-97.
García-Cruz, D., Zafra de la Rosa, G. F., Sánchez-Corona, J., Nazará, Z., López-Cardona, M. G., García-Ortiz, J. E., Corona-Rivera, J. R., & Cantú, J. M. (2007). SED-brachydactyly and distinctive speech: report of two new cases. Genetic Counseling (Geneva, Switzerland), 18(1), 85-97.
García-Cruz D, et al. SED-brachydactyly and Distinctive Speech: Report of Two New Cases. Genet Couns. 2007;18(1):85-97. PubMed PMID: 17515304.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - SED-brachydactyly and distinctive speech: report of two new cases. AU - García-Cruz,D, AU - Zafra de la Rosa,G F, AU - Sánchez-Corona,J, AU - Nazará,Z, AU - López-Cardona,M G, AU - García-Ortiz,J E, AU - Corona-Rivera,J R, AU - Cantú,J M, PY - 2007/5/23/pubmed PY - 2007/6/22/medline PY - 2007/5/23/entrez SP - 85 EP - 97 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 18 IS - 1 N2 - We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis. The clinical and radiological features present in mother and son suggest a probable autosomal dominant mode of inheritance and variable expressivity. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/17515304/SED_brachydactyly_and_distinctive_speech:_report_of_two_new_cases_ L2 - http://www.diseaseinfosearch.org/result/9746 DB - PRIME DP - Unbound Medicine ER -