title: 3M syndrome: a report of four cases in two families.
abstract: 3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.
authors.affiliation: Göztepe Educational and Research Hospital, Pediatric Endocrinology Clinic, Istanbul, Turkey. aylaguven@yahoo.com
authors.forename: Ayla
authors.initials: A
authors.lastname: Güven
authors.forename: Ayşe Nurcan
authors.initials: AN
authors.lastname: Cebeci
mesh_terms: D002648:Child; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013131:Spine / Q000002:abnormalities / Q000473:pathology