Abstract
Lenz-Majewski syndrome (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies. Recently, mutations in PTDSS1 gene have been identified as causative in six unrelated individuals. We report the seventh mutation proven case of LMS and provide a concise review of all known patients till date.
Keywords:
Lenz-Majewski syndrome; PTDSS1.
Copyright © 2015 Elsevier Masson SAS. All rights reserved.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Base Sequence
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Bone Diseases, Developmental / diagnosis*
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Bone Diseases, Developmental / diagnostic imaging
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Bone Diseases, Developmental / genetics*
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Bone Diseases, Developmental / pathology
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Child, Preschool
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Exons
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Facies*
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Gene Expression
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Humans
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Intellectual Disability / diagnosis*
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Intellectual Disability / diagnostic imaging
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Intellectual Disability / genetics*
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Intellectual Disability / pathology
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Male
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Molecular Sequence Data
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Mutation*
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Nitrogenous Group Transferases / genetics*
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Radiography
Substances
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Nitrogenous Group Transferases
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phospholipid serine base exchange enzyme
Supplementary concepts
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Lenz Majewski hyperostotic dwarfism