Abstract
Objective
To evaluate the cause of short stature in children.
Case presentation
Two children with suspected skeletal dysplasia and short stature were evaluated.
Conclusions
The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a genetically heterogeneous disorder and the phenotype is similar. This is a rare autosomal recessive disorder with normal intellect. Two affected children have been identified by whole-exome sequencing. One patient harboured a compound heterozygous variant and the other was a homozygous missense variant. The genetic diagnosis helped in counselling the families and facilitated prenatal diagnosis in one (case 1) family.
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Research funding: None.
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Author contributions: This study is done only by a single author.
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Competing interests: There is no financial, personal or professional conflict in connection with the evaluated manuscript.
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Informed consent: Informed consent, including written permission from the patient’s mother, was obtained.
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Ethical approval: All investigations conducted have followed the tenets of the Helsinki Declaration. The review board of Rainbow children hospital approved the study.
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