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A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy.

Abstract

We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed osseous maturation, most closely resembling patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). Intrauterine growth retardation, a universal finding in the MOPD II, was absent in our patient.

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  • Authors+Show Affiliations

    ,

    Department of Clinical Genetics, The Childrens' Hospital at Westmead, Sydney, Australia.

    , , ,

    Source

    Clinical dysmorphology 11:4 2002 Oct pg 255-60

    MeSH

    Abnormalities, Multiple
    Bone Diseases, Developmental
    Child, Preschool
    Human Growth Hormone
    Humans
    Hypopituitarism
    Male
    Microcephaly
    Penis
    Retinitis Pigmentosa
    Scrotum

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    12401990

    Citation

    Maclean, K, et al. "A Variant Microcephalic Osteodysplastic Slender-bone Disorder With Growth Hormone Deficiency and a Pigmentary Retinopathy." Clinical Dysmorphology, vol. 11, no. 4, 2002, pp. 255-60.
    Maclean K, Ambler G, Flaherty M, et al. A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. Clin Dysmorphol. 2002;11(4):255-60.
    Maclean, K., Ambler, G., Flaherty, M., Kozlowski, K., & Adès, L. C. (2002). A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. Clinical Dysmorphology, 11(4), pp. 255-60.
    Maclean K, et al. A Variant Microcephalic Osteodysplastic Slender-bone Disorder With Growth Hormone Deficiency and a Pigmentary Retinopathy. Clin Dysmorphol. 2002;11(4):255-60. PubMed PMID: 12401990.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. AU - Maclean,K, AU - Ambler,G, AU - Flaherty,M, AU - Kozlowski,K, AU - Adès,L C, PY - 2002/10/29/pubmed PY - 2003/3/13/medline PY - 2002/10/29/entrez SP - 255 EP - 60 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 11 IS - 4 N2 - We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed osseous maturation, most closely resembling patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). Intrauterine growth retardation, a universal finding in the MOPD II, was absent in our patient. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/12401990/A_variant_microcephalic_osteodysplastic_slender_bone_disorder_with_growth_hormone_deficiency_and_a_pigmentary_retinopathy_ L2 - http://Insights.ovid.com/pubmed?pmid=12401990 DB - PRIME DP - Unbound Medicine ER -