3-M syndrome: a report of three Egyptian cases with review of the literature.
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 knowledge, these are the first reported Egyptian patients with this rare disorder. This syndrome may be underreported because of the phenotypic overlap with other low birth dwarfism syndromes. Recent identification of a gene mutated in some cases of 3-M syndrome will aid diagnosis.
Temtamy
Samia A
SA
Clinical Genetics Department, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt. samiatemtamy@yahoo.com
Aglan
Mona S
MS
Ashour
Adel M
AM
Ramzy
Magda I
MI
Hosny
Laila A
LA
Mostafa
Mostafa I
MI
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D003937:Diagnosis, Differential; D004534:Egypt; D005190:Family; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging