title: Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.
abstract: 3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and postnatal growth retardation with minimal dysmorphic features and distinguishing radiological findings. We report a patient who was first admitted at 7.5 years of age. He was born to consanguineous parents with a birth weight of 2250 g. Physical examination revealed a severe short stature (height, 95 cm; SD score -5.64) and minimal dysmorphic features. Biochemistry, endocrine work-up, and karyotype were normal. Reevaluation at 16.5 years of age revealed a height of 128.5 cm (SD score -5.27), prominent forehead, anteverted nasal openings, fleshy nasal tip, full lips, malar hypoplasia, hyperlordosis, prominent heels, testicular volumes 8-10 mL, and pubic hair consistent with Tanner stage II. Growth hormone trial for a year resulted in inadequate height gain (3 cm). The diagnosis of 3-M syndrome was made upon typical findings (thin long bones with diaphyseal narrowing and tall lumbar vertebrae) in a recent skeletal survey. Genetic analysis disclosed a homozygote frame shift mutation in exon 2: c.457_458delinsT resulting in p.Gly153fs.
authors: Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey.
authors: Korcan
authors: K
authors: Demir
authors: Ayça
authors: A
authors: Altıncık
authors: Ece
authors: E
authors: Böber
mesh_terms: D000293:Adolescent; D001827:Body Height / Q000235:genetics; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004392:Dwarfism / Q000150:complications / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D020125:Mutation, Missense / Q000502:physiology; D011859:Radiography; D012720:Severity of Illness Index; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: D003598:Cytoskeletal Proteins; C522000:OBSL1 protein, human