3-M syndrome in two sisters
- PMID: 12174011
- DOI: 10.1046/j.1440-1754.2002.00026.x
3-M syndrome in two sisters
Abstract
3-M syndrome is a rare, autosomal recessive dwarfing syndrome characterized by prenatal growth restriction, facial dysmorphism and absence of both microcephaly and mental retardation. The term 3-M syndrome originates from the common initial of the first three authors of the first report. The diagnosis is established by a combination of clinical history, clinical examination and radiographic findings. The present report shows two sisters whose facial features were slightly different from those usually reported. In addition, they presented with small nails and abnormal dermatoglyphics. The present report expands the phenotypic spectrum of 3-M syndrome.
Similar articles
-
[Dubowitz syndrome. A diagnosis not to be missed].Arch Fr Pediatr. 1991 Dec;48(10):715-8. Arch Fr Pediatr. 1991. PMID: 1793348 French.
-
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866
-
Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.Am J Med Genet. 1987 May;27(1):183-8. doi: 10.1002/ajmg.1320270119. Am J Med Genet. 1987. PMID: 3300331
-
[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties].Arch Pediatr. 1996 Jan;3(1):55-62. doi: 10.1016/s0929-693x(96)80011-x. Arch Pediatr. 1996. PMID: 8745829 Review. French.
-
Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature.Cardiol Young. 2022 Mar;32(3):487-490. doi: 10.1017/S1047951121003097. Epub 2021 Aug 13. Cardiol Young. 2022. PMID: 34387179 Review.
Cited by
-
Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.J Med Genet. 2007 Dec;44(12):772-8. doi: 10.1136/jmg.2007.051979. Epub 2007 Aug 3. J Med Genet. 2007. PMID: 17675530 Free PMC article.
-
Clinical utility gene card for: 3-M syndrome - update 2013.Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.156. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900270 Free PMC article. No abstract available.
-
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.J Med Genet. 2010 Aug;47(8):538-48. doi: 10.1136/jmg.2009.074815. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577004 Free PMC article.
-
Clinical utility gene card for: 3M syndrome.Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.32. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364696 Free PMC article. No abstract available.
-
Chemosensory Event-Related Potentials and Power Spectrum could be A Possible Biomarker in 3M Syndrome Infants?Brain Sci. 2020 Mar 30;10(4):201. doi: 10.3390/brainsci10040201. Brain Sci. 2020. PMID: 32235515 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical