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Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome.
Am J Med Genet. 1997 Jul 11; 71(1):87-92.AJ

Abstract

The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.

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Authors+Show Affiliations

Nishimura G
Department of Radiology, Dokkyo University School of Medicine, Tochigi, Shimotsuga-gun, Japan.
Harigaya A
No affiliation info available
Kuwashima M
No affiliation info available
Kuwashima S
No affiliation info available

MeSH

AdultEctodermal DysplasiaFemaleGrowth DisordersHumansIntellectual DisabilityMaleShort Rib-Polydactyly SyndromeSkin AbnormalitiesSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9215775

Citation

Nishimura, G, et al. "Craniotubular Dysplasia With Severe Postnatal Growth Retardation, Mental Retardation, Ectodermal Dysplasia, and Loose Skin: Lenz-Majewski-like Syndrome." American Journal of Medical Genetics, vol. 71, no. 1, 1997, pp. 87-92.
Nishimura G, Harigaya A, Kuwashima M, et al. Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. Am J Med Genet. 1997;71(1):87-92.
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. American Journal of Medical Genetics, 71(1), 87-92.
Nishimura G, et al. Craniotubular Dysplasia With Severe Postnatal Growth Retardation, Mental Retardation, Ectodermal Dysplasia, and Loose Skin: Lenz-Majewski-like Syndrome. Am J Med Genet. 1997 Jul 11;71(1):87-92. PubMed PMID: 9215775.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. AU - Nishimura,G, AU - Harigaya,A, AU - Kuwashima,M, AU - Kuwashima,S, PY - 1997/7/11/pubmed PY - 2000/6/20/medline PY - 1997/7/11/entrez SP - 87 EP - 92 JF - American journal of medical genetics JO - Am J Med Genet VL - 71 IS - 1 N2 - The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9215775/Craniotubular_dysplasia_with_severe_postnatal_growth_retardation_mental_retardation_ectodermal_dysplasia_and_loose_skin:_Lenz_Majewski_like_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=71&issue=1&spage=87 DB - PRIME DP - Unbound Medicine ER -