A rare cause of short stature: patient with 3m syndrome revealed a novel mutation in obsl1 gene.

A RARE CAUSE OF SHORT STATURE: PATIENT WITH 3M SYNDROME REVEALED A NOVEL MUTATION IN OBSL1 GENE. J Clin Res Pediatr Endocrinol. 2016 Oct 31;: Authors: Keskin M, Muratoğlu Şahin N, Kurnaz E, Bayramoğlu E, Şavas Erdeve S, Aycan Z, Çetinkaya S Abstract The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A 16 months old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on 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 height was 67 cm (-3.6 SD score), body weight was 7.2 kg (-2.9 SD score) with a head circumference of 42 cm (below 3rd percentile). She also had numerous characteristic physical features like 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 during the differential diagnosis of children with severe short stature con...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research