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Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
J Med Genet 1998; 35(1):61-4JM

Abstract

We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition.

Authors+Show Affiliations

University Children's Hospital Vienna, AKH, Department of Neonatology, Austria.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9475098

Citation

Berger, A, et al. "Neonatal Cholestasis and Focal Medullary Dysplasia of the Kidneys in a Case of Microcephalic Osteodysplastic Primordial Dwarfism." Journal of Medical Genetics, vol. 35, no. 1, 1998, pp. 61-4.
Berger A, Haschke N, Kohlhauser C, et al. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J Med Genet. 1998;35(1):61-4.
Berger, A., Haschke, N., Kohlhauser, C., Amman, G., Unterberger, U., & Weninger, M. (1998). Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. Journal of Medical Genetics, 35(1), pp. 61-4.
Berger A, et al. Neonatal Cholestasis and Focal Medullary Dysplasia of the Kidneys in a Case of Microcephalic Osteodysplastic Primordial Dwarfism. J Med Genet. 1998;35(1):61-4. PubMed PMID: 9475098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. AU - Berger,A, AU - Haschke,N, AU - Kohlhauser,C, AU - Amman,G, AU - Unterberger,U, AU - Weninger,M, PY - 1998/2/25/pubmed PY - 1998/2/25/medline PY - 1998/2/25/entrez SP - 61 EP - 4 JF - Journal of medical genetics JO - J. Med. Genet. VL - 35 IS - 1 N2 - We report on a male infant who presented with intrauterine growth retardation, severe postnatal failure to thrive, microcephaly, facial dysmorphism, and skeletal dysplasia. The clinical and radiological findings are consistent with former descriptions of microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neonatal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal medullary dysplasia further supports the hypothesis of a basic defect in tissue differentiation in the pathogenesis of this rare condition. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/9475098/Neonatal_cholestasis_and_focal_medullary_dysplasia_of_the_kidneys_in_a_case_of_microcephalic_osteodysplastic_primordial_dwarfism_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=9475098 DB - PRIME DP - Unbound Medicine ER -