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[Differential diagnostic considerations in microcephalic dwarfism].

Abstract

PURPOSE

While the rare Seckel-Syndrome is defined by clear criteria, clinical and radiologic findings for microcephalic osteodysplastic primordial dwarfism (MOPD) make an exact diagnosis and classification difficult. By comparing our patients to previously described cases of MOPD we evaluate the hypothesis that this disorder has a greater heterogeneity than has been believed up until now. Furthermore the differential diagnosis of the MOPD-complex is discussed.

RESULTS

Two cases that show typical growth retardation, microcephalus and facial anomalies as well as osteodysplastic deformities including hip dysplasia are presented. The parents of both children are consanguineous and of Arabic race. In one of the children growth hormone levels were noticeably decreased. In discrepancy to the Seckel-syndrome both children showed no signs of mental retardation, therefore the classification into the heterogeneous group of microcephalic osteodysplastic primordial dwarfism (MOPD) is the most likely diagnosis.

CONCLUSION

It is suggested that microcephalic osteodysplastic primordial dwarfism (MOPD) has a greater clinical and radiological expression than has been assumed up until now. Whether our results are merely a variant or suggest a new subtype of the MOPD can only be resolved by further cases. The exact pathogenesis of the disease currently remains unknown but the most probable cause is an autosomal recessive inheritance.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Klinik und Poliklinik für Orthopädie, Rheinische Friedrich-Wilhelms-Universität zu Bonn.

    , ,

    Source

    MeSH

    Abnormalities, Multiple
    Bone Diseases, Developmental
    Child, Preschool
    Consanguinity
    Dwarfism
    Female
    Humans
    Infant
    Male
    Microcephaly
    Phenotype
    Syndrome

    Pub Type(s)

    Case Reports
    English Abstract
    Journal Article

    Language

    ger

    PubMed ID

    10820877

    Citation

    Kraft, C N., et al. "[Differential Diagnostic Considerations in Microcephalic Dwarfism]." Zeitschrift Fur Orthopadie Und Ihre Grenzgebiete, vol. 138, no. 2, 2000, pp. 126-30.
    Kraft CN, Diedrich O, Wagner U, et al. [Differential diagnostic considerations in microcephalic dwarfism]. Z Orthop Ihre Grenzgeb. 2000;138(2):126-30.
    Kraft, C. N., Diedrich, O., Wagner, U., & Schmitt, O. (2000). [Differential diagnostic considerations in microcephalic dwarfism]. Zeitschrift Fur Orthopadie Und Ihre Grenzgebiete, 138(2), pp. 126-30.
    Kraft CN, et al. [Differential Diagnostic Considerations in Microcephalic Dwarfism]. Z Orthop Ihre Grenzgeb. 2000;138(2):126-30. PubMed PMID: 10820877.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - [Differential diagnostic considerations in microcephalic dwarfism]. AU - Kraft,C N, AU - Diedrich,O, AU - Wagner,U, AU - Schmitt,O, PY - 2000/5/23/pubmed PY - 2000/7/8/medline PY - 2000/5/23/entrez SP - 126 EP - 30 JF - Zeitschrift fur Orthopadie und ihre Grenzgebiete JO - Z Orthop Ihre Grenzgeb VL - 138 IS - 2 N2 - PURPOSE: While the rare Seckel-Syndrome is defined by clear criteria, clinical and radiologic findings for microcephalic osteodysplastic primordial dwarfism (MOPD) make an exact diagnosis and classification difficult. By comparing our patients to previously described cases of MOPD we evaluate the hypothesis that this disorder has a greater heterogeneity than has been believed up until now. Furthermore the differential diagnosis of the MOPD-complex is discussed. RESULTS: Two cases that show typical growth retardation, microcephalus and facial anomalies as well as osteodysplastic deformities including hip dysplasia are presented. The parents of both children are consanguineous and of Arabic race. In one of the children growth hormone levels were noticeably decreased. In discrepancy to the Seckel-syndrome both children showed no signs of mental retardation, therefore the classification into the heterogeneous group of microcephalic osteodysplastic primordial dwarfism (MOPD) is the most likely diagnosis. CONCLUSION: It is suggested that microcephalic osteodysplastic primordial dwarfism (MOPD) has a greater clinical and radiological expression than has been assumed up until now. Whether our results are merely a variant or suggest a new subtype of the MOPD can only be resolved by further cases. The exact pathogenesis of the disease currently remains unknown but the most probable cause is an autosomal recessive inheritance. SN - 0044-3220 UR - https://www.unboundmedicine.com/medline/citation/10820877/[Differential_diagnostic_considerations_in_microcephalic_dwarfism]_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2000-10126 DB - PRIME DP - Unbound Medicine ER -