For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
2
views
5
references
 Top references
cited by
3
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      153
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      3-M Syndrome: A Local Case Report

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Patient: Male, 3

          Final Diagnosis: 3-M syndrome

          Symptoms: Severe growth retardation • dysmorphic features and skeletal abnormalities

          Medication: None

          Clinical Procedure: None

          Specialty: Pediatric Neurology

          Objective:

          Rare disease

          Background:

          3-M syndrome is an uncommon disease characterized by severe growth retardation, dysmorphic features, and skeletal abnormalities. Radiographic images may show delayed bone maturation long slender tubular bones, and tall vertebral bodies. Due to the inheritance mode of 3-M syndrome disease, early diagnosis is vital for genetic counseling.

          Case Report:

          In this case report, we present the case of a 3-year-old male patient who was referred to our clinic for development assessment due to delayed development, particularly speech, who had clinical outcomes of 3-M syndrome.

          Conclusions:

          The aim of the case report is to add this new patient to the literature on 3-M syndrome.

          Related collections

          Most cited references5

          • Record: found
          • Abstract: found
          • Article: not found

          Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

          T Ikeuchi, Anna Shvedova, A Miyashia … (2007)
          In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. Because Yakuts are considered as a population isolate and the disease is rare in other populations, genomewide homozygosity mapping was performed using 763 microsatellite markers and candidate gene approach in the critical region to identify the causative gene for the short stature syndrome in Yakut. All families shared an identical haplotype in the same region as the identical loci responsible for 3-M and gloomy face syndromes and a novel homozygous 4582insT mutation in Cullin 7 (CUL7) was found, which resulted in a frameshift mutation and the formation of a subsequent premature stop codon at 1553 (Q1553X). Yakut patients with short stature syndrome have unique features such as a high frequency of neonatal respiratory distress and few bone abnormalities, whereas the clinical features of the other Yakut patients were similar to those of 3-M syndrome. Furthermore, abnormal vascularisation was present in the fetal placenta and an abnormal development of cartilage tissue in the bronchus of a fetus with CUL7 mutation. These findings may provide a new understanding of the clinical diversity and pathogenesis of short stature syndrome with CUL7 mutation.
          Article 0 comments Cited 20 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: found
            Is Open Access

            3M Syndrome: A Report of Four Cases in Two Families

            Ayla Güven, Ayşe Cebeci (2011)
            3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared.
            Article 0 comments Cited 5 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              The 3-M syndrome: a heritable low birthweight dwarfism

              JD MILLER, VA McKusick, P Malvaux … (1975)
              Article 0 comments Cited 5 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Am J Case Rep
                Journal ID (iso-abbrev): Am J Case Rep
                Journal ID (publisher-id): amjcaserep
                Title: The American Journal of Case Reports
                Publisher: International Scientific Literature, Inc.
                ISSN (Electronic): 1941-5923
                Publication date Collection: 2019
                Publication date (Electronic): 09 January 2019
                Volume: 20
                Pages: 36-38
                Affiliations
                [1 ]Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia
                [2 ]Department of Neurolphysiology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia
                Author notes

                Authors’ Contribution:

                [A]

                Study Design

                [B]

                Data Collection

                [C]

                Statistical Analysis

                [D]

                Data Interpretation

                [E]

                Manuscript Preparation

                [F]

                Literature Search

                [G]

                Funds Collection

                Conflict of interest: None declared

                Corresponding Author: Hafiz HabibUllah, e-mail: hafiz.HabibUllah@ 123456kfsh.med.sa
                Article
                Publisher ID: 912736
                DOI: 10.12659/AJCR.912736
                PMC ID: 6335979
                PubMed ID: 30622233
                SO-VID: 1f4b3919-6ae3-4409-a77c-bb53d13a6c64
                Copyright © © Am J Case Rep, 2019
                License:

                This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International ( CC BY-NC-ND 4.0)

                History
                Date received : 14 August 2018
                Date accepted : 21 September 2018
                Categories
                Subject: Articles

                Keywords: lead poisoning, nervous system, childhood,musculoskeletal abnormalities,pediatric assistants
                Data availability:
                Keywords: lead poisoning, nervous system, childhood, musculoskeletal abnormalities, pediatric assistants

                Comments

                Comment on this article

                scite_

                Similar content153

                See all similar

                Cited by3

                See all cited by