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A Japanese patient with a mild Lenz-Majewski syndrome.

Abstract
We report on a sclerosing bone dysplasia, associated with cutis laxa, enamel dysplasia, and mental retardation. The patient was a 17-year-old Japanese boy of normal height and muscular build. Cutis laxa with prominent veins in the scalp and abdominal wall and delayed eruption of permanent teeth attracted the attention of clinicians in infancy and adolescence, respectively. The clinical manifestations included a progeroid facial appearance with prognathism, wrinkled skin, and interdigital webbing. The intelligence quotient was estimated at 60. Enamel dysplasia was histologically confirmed. Skeletal changes included calvarial hyperostosis, sclerosis of the skull base, an enlarged, sclerotic mandible, broad clavicles and ribs, and diaphyseal undermodeling of the tubular bones. Metaepiphyseal sclerosis or longitudinal striation was found in the long bones. Metaphyseal equivalents of the axial skeleton showed dense osteosclerosis. These clinical and radiological manifestations overlapped with those of Lenz-Majewski syndrome. Unlike the classical phenotype of the disorder, however, he did not show brachymesophalangy with proximal symphalangism or growth failure. The present case may be considered to fall in the mildest end in the phenotypic continuum of Lenz-Majewski syndrome, suggesting that the clinical spectrum of the disorder may be broader than currently thought.
AuthorsSumito Dateki, Tatsuro Kondoh, Gen Nishimura, Katsuaki Motomura, Koh-Ichiro Yoshiura, Akira Kinoshita, Hideo Kuniba, Yoshiyuki Koga, Hiroyuki Moriuchi
JournalJournal of human genetics (J Hum Genet) Vol. 52 Issue 8 Pg. 686-689 ( 2007) ISSN: 1434-5161 [Print] England
PMID17593321 (Publication Type: Case Reports, Journal Article)
Chemical References
  • LDL-Receptor Related Proteins
  • LRP5 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-5
  • TGFB1 protein, human
  • Transforming Growth Factor beta1
Topics
  • Adolescent
  • Asian People
  • Bone Diseases, Developmental (diagnosis, diagnostic imaging, genetics)
  • Cutis Laxa (diagnosis, genetics)
  • DNA Mutational Analysis
  • Dental Enamel Hypoplasia (diagnosis, diagnostic imaging, genetics)
  • Humans
  • Intellectual Disability (diagnosis, genetics)
  • LDL-Receptor Related Proteins (genetics)
  • Low Density Lipoprotein Receptor-Related Protein-5
  • Male
  • Radiography
  • Syndrome
  • Transforming Growth Factor beta1 (genetics)

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