3-M syndrome: a report of three Egyptian cases with review of the literature

Clinical Dysmorphology
Samia A TemtamyMostafa I Mostafa

Abstract

The 3-M syndrome is a rare autosomal recessive disorder. It is characterized by prenatal and postnatal growth retardation associated with characteristic features. In this study, we report on three patients from two unrelated families, including two male sibs, with the characteristic features and radiological findings of the 3-M syndrome. The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short broad neck, broad chest with transverse grooves of anterior thorax and hyperlordosis. An orodental examination revealed characteristic findings, some of which were not reported before. Prominent premaxilla, hypoplastic maxilla, thick patulous lips, high-arched palate, median fissured tongue, delayed eruption of teeth with enamel hypocalcification and malocclusion were present in our three studied cases. Radiographic studies showed slender long bones and ribs, a narrow pelvis and foreshortened vertebral bodies. Our reported cases are the offspring of healthy consanguineous parents, confirming the autosomal recessive pattern of inheritance in the syndrome. Cases were reported from different countries all over the world. To our ...Continue Reading

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Citations

Mar 3, 2011·European Journal of Human Genetics : EJHG·Muriel Holder-EspinasseValérie Cormier-Daire
Aug 1, 2013·European Journal of Human Genetics : EJHG·Muriel Holder-EspinasseValérie Cormier-Daire
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Jun 2, 2009·American Journal of Human Genetics·Dan HansonPeter E Clayton
Jul 5, 2017·Hormone Research in Pædiatrics·Lihong LiaoAndrew Dauber
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Nov 10, 2013·Proceedings. Mathematical, Physical, and Engineering Sciences·Michael DeeChristopher Bronk Ramsey
Mar 9, 2019·Annual Review of Genomics and Human Genetics·Samia A Temtamy

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