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.
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References
Braham RL (1969) Multiple congenital abnormalities with diaphyseal dysplasia (Camurati–Engelmann’s syndrome). Oral Surg 27:20–26
Chrzanowska KH, Fryns JP, Krajewska M, Van den Berghe H, Wisniewski L (1989) Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz–Majewski syndrome. Am J Med Genet 32:470–474
Gorlin RJ, Whitley CB (1983) Lenz–Majewski syndrome. Radiology 149:129–131
Kaye CI, Fisher DE, Esterly NB (1974) Cutis laxa, skeletal anomalies, and ambiguous genitalia. Am J Dis Child 127:115–117
Lenz W, Majewski F (1974) A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphysial hypostosis. Birth Defects Orig Arctic Ser 10:133–136
Macpherson RI (1974) Craniaodiaphyseal dysplasia, a disease or group of diseases? J Can Assoc Radiol 25:22–33
Majewski F (2000) Lenz–Majewski hyperostotic dwarfism: reexamination of the original patient. Am J Med Genet 93:335–338
Nishimura G, Harigaya A, Kuwashima M, Kuwashima S (1997) Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz–Majewski-like syndrome. Am J Med Genet 71:87–92
Robinow M, Johanson AJ, Smith TH (1977) The Lenz–Majewski hyperostotic dwarfism. J Pediatr 91:417–421
Saraiva JM (2000) Dysgenesis of corpus callosum in Lenz–Majewski hyperostotic dwarfism. Am J Med Genet 91:200–202
Superti-Furga A, Unger S (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet 143A:1–18
Spranger JW, Brill PW, Poznanski A (2002) Bone dysplasias: an atlas of genetic disorders of skeletal development, 2nd edn. Oxford University Press, Oxford
Wattanasirichaigoon D, Visudtibhan A, Jaovisidha S, Laothamatas J, Chunharas A (2004) Expanding the phenotypic spectrum of Lenz–Majewski syndrome: facial palsy, cleft palate and hydrocephalus. Clin Dysmorph 13:137–142
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Dateki, S., Kondoh, T., Nishimura, G. et al. A Japanese patient with a mild Lenz–Majewski syndrome. J Hum Genet 52, 686–689 (2007). https://doi.org/10.1007/s10038-007-0165-y
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DOI: https://doi.org/10.1007/s10038-007-0165-y
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