Literature DB >> 12174011

3-M syndrome in two sisters.

I Marik1, O Marikova, M Kuklik, D Zemkova, K Kozlowski.   

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.

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Year:  2002        PMID: 12174011     DOI: 10.1046/j.1440-1754.2002.00026.x

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN: 1034-4810            Impact factor:   1.954


  5 in total

1.  Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Authors:  N Maksimova; K Hara; A Miyashia; I Nikolaeva; A Shiga; A Nogovicina; A Sukhomyasova; V Argunov; A Shvedova; T Ikeuchi; M Nishizawa; R Kuwano; O Onodera
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

2.  Clinical utility gene card for: 3-M syndrome - update 2013.

Authors:  Muriel Holder-Espinasse; Melita Irving; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2013-07-31       Impact factor: 4.246

3.  Clinical utility gene card for: 3M syndrome.

Authors:  Muriel Holder-Espinasse; Melita Irving; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2011-03-02       Impact factor: 4.246

4.  Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

Authors:  Nadezda Maksimova; Kenju Hara; Irina Nikolaeva; Tan Chun-Feng; Tomoaki Usui; Mineo Takagi; Yasushi Nishihira; Akinori Miyashita; Hiroshi Fujiwara; Tokuhide Oyama; Anna Nogovicina; Aitalina Sukhomyasova; Svetlana Potapova; Ryozo Kuwano; Hitoshi Takahashi; Masatoyo Nishizawa; Osamu Onodera
Journal:  J Med Genet       Date:  2010-06-24       Impact factor: 6.318

5.  Chemosensory Event-Related Potentials and Power Spectrum could be A Possible Biomarker in 3M Syndrome Infants?

Authors:  Sara Invitto; Alberto Grasso; Dario Domenico Lofrumento; Vincenzo Ciccarese; Angela Paladini; Pasquale Paladini; Raffaella Marulli; Vilfredo De Pascalis; Matteo Polsinelli; Giuseppe Placidi
Journal:  Brain Sci       Date:  2020-03-30
  5 in total

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