Abstract
This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differential diagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome. A striking mentally retarded (I. Q. 54) 9-year-old boy with primordial proportionate short stature exhibited characteristic features of the 3M syndrome (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, muscular hypotonia with joint laxity - "falling hands", radiographic manifestations included the tall vertebral bodies and gracile long bones. Furthermore there was a dent temporal at the left. But this feature is found on many other syndromes with nanosomia frontotemporal, less frequent the low position of the navel on these patients. The karyotype was normal, the case apparently sporadic. MMM can be differentiated from other types of nanosomia by clinical criterias; a molecular genetic proof is not yet possible.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
