A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene

The miller-mckusick-malvaux (3m) syndrome is a rare autosomal disorder that can lead to short stature,dysmorphic features,and skeletal abnormalities with normal intelligence. a 16-month-old female patient had been referred to our clinic due to short stature. case history revealed a birth weight of 1740 grams on the 39th week of gestation,with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. on physical examination,her length was 67 cm [-3.6 standard deviation (sd) score],weight 7.2 kg (-2.9 sd score),and head circumference 42 cm (below 3rd percentile). she also had numerous characteristic physical features such as a triangular face,fleshy nose tip,a long philtrum,prominent mouth and lips,pointed chin,lumbar lordosis,and prominent heels. as her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile,the diagnosis of 3m syndrome was strongly considered. genetic assessment of the patient revealed a novel homozygous p.t45nfs*40 mutation in the obsl1 gene. it is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature. © 2017 by turkish pediatric endocrinology and diabetes society.