title: A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.
abstract: 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 39thweek 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 3rdpercentile). 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.T425Nfs*40 [corrected] mutation in theOBSL1gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature.
authors: Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 305 65 11 E-mail: meliksah.keskin@hotmail.com.
authors: Melikşah
authors: M
authors: Keskin
authors: Nursel
authors: N
authors: Muratoğlu Şahin
authors: Erdal
authors: E
authors: Kurnaz
authors: Elvan
authors: E
authors: Bayramoğlu
authors: Şenay
authors: Ş
authors: Savaş Erdeve
authors: Zehra
authors: Z
authors: Aycan
authors: Semra
authors: S
authors: Çetinkaya
mesh_terms: D003598:Cytoskeletal Proteins / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D013006:Growth Hormone / Q000627:therapeutic use; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D010290:Parents; D013131:Spine / Q000002:abnormalities*
chemical_list: D003598:Cytoskeletal Proteins; C522000:OBSL1 protein, human; D013006:Growth Hormone