The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm (−4 SD score), body weight was 7.2 kg (−3.5 SD score) with a head circumference of 42 cm. She also had numerous characteristic physical features like a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, significant lumbar lordosis and prominent heels. As her growth and developmental delay had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was considered. Genetic assessment of the patient revealed a novel homozygous p.T45Nfs*40 mutation in the OSBL1 gene. It is recommended that physicians pay further attention to this condition during the differential diagnosis of children with severe short stature conditions as well as mild skeletal deformities.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology