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Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

Abstract

We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who survived had hypoplastic teeth. Both of the male patients had cryptorchidism. These four children have a distinctive syndrome which is similar to that reported by Biesecker (J Med Genet (1991) 28: 131-134).

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  • Authors+Show Affiliations

    ,

    Regional Genetics Service, St Mary's Hospital, Manchester, UK.

    , ,

    Source

    Clinical dysmorphology 3:2 1994 Apr pg 115-20

    MeSH

    Abnormalities, Multiple
    Blepharophimosis
    Dental Enamel Hypoplasia
    Face
    Female
    Humans
    Infant, Newborn
    Intellectual Disability
    Male
    Muscle Hypotonia
    Syndrome
    Tooth Abnormalities

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    8055130

    Citation

    Clayton-Smith, J, et al. "Ohdo-like Blepharophimosis Syndrome With Distinctive Facies, Neonatal Hypotonia, Mental Retardation and Hypoplastic Teeth." Clinical Dysmorphology, vol. 3, no. 2, 1994, pp. 115-20.
    Clayton-Smith J, Krajewska-Walasek M, Fryer A, et al. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clin Dysmorphol. 1994;3(2):115-20.
    Clayton-Smith, J., Krajewska-Walasek, M., Fryer, A., & Donnai, D. (1994). Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clinical Dysmorphology, 3(2), pp. 115-20.
    Clayton-Smith J, et al. Ohdo-like Blepharophimosis Syndrome With Distinctive Facies, Neonatal Hypotonia, Mental Retardation and Hypoplastic Teeth. Clin Dysmorphol. 1994;3(2):115-20. PubMed PMID: 8055130.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. AU - Clayton-Smith,J, AU - Krajewska-Walasek,M, AU - Fryer,A, AU - Donnai,D, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 115 EP - 20 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 3 IS - 2 N2 - We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who survived had hypoplastic teeth. Both of the male patients had cryptorchidism. These four children have a distinctive syndrome which is similar to that reported by Biesecker (J Med Genet (1991) 28: 131-134). SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8055130/Ohdo_like_blepharophimosis_syndrome_with_distinctive_facies_neonatal_hypotonia_mental_retardation_and_hypoplastic_teeth_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8055130.ui DB - PRIME DP - Unbound Medicine ER -