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[3M syndrome: case history].
Klin Padiatr. 2006 Sep-Oct; 218(5):287-91.KP

Abstract

BACKGROUND

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.

CASE REPORT

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.

CONCLUSION

MMM can be differentiated from other types of nanosomia by clinical criterias; a molecular genetic proof is not yet possible.

Authors+Show Affiliations

Fehlow P
Ehem. Bezirkskrankenhaus für Psychiatrie und Neurologie, Mühlhausen/Thüringen.

MeSH

Abnormalities, MultipleAdolescentBone Diseases, DevelopmentalChildDiagnosis, DifferentialDwarfismFollow-Up StudiesGenetic CounselingHumansIntellectual DisabilityMaleMuscle HypotoniaSpineSyndrome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

16586274

Citation

Fehlow, P. "[3M Syndrome: Case History]." Klinische Padiatrie, vol. 218, no. 5, 2006, pp. 287-91.
Fehlow P. [3M syndrome: case history]. Klin Padiatr. 2006;218(5):287-91.
Fehlow, P. (2006). [3M syndrome: case history]. Klinische Padiatrie, 218(5), 287-91.
Fehlow P. [3M Syndrome: Case History]. Klin Padiatr. 2006 Sep-Oct;218(5):287-91. PubMed PMID: 16586274.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [3M syndrome: case history]. A1 - Fehlow,P, Y1 - 2006/03/16/ PY - 2006/4/6/pubmed PY - 2006/12/9/medline PY - 2006/4/6/entrez SP - 287 EP - 91 JF - Klinische Padiatrie JO - Klin Padiatr VL - 218 IS - 5 N2 - BACKGROUND: 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. CASE REPORT: 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. CONCLUSION: MMM can be differentiated from other types of nanosomia by clinical criterias; a molecular genetic proof is not yet possible. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/16586274/[3M_syndrome:_case_history]_ DB - PRIME DP - Unbound Medicine ER -