A Japanese patient with a mild Lenz–Majewski syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-06-26

AUTHORS

Sumito Dateki, Tatsuro Kondoh, Gen Nishimura, Katsuaki Motomura, Koh-ichiro Yoshiura, Akira Kinoshita, Hideo Kuniba, Yoshiyuki Koga, Hiroyuki Moriuchi

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. More... »

PAGES

686-689

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10038-007-0165-y

DOI

http://dx.doi.org/10.1007/s10038-007-0165-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037685763

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17593321


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