Literature DB >> 7197463

3-M slender-boned nanism. An intrauterine growth retardation syndrome.

J M Cantú, D García-Cruz, J Sánchez-Corona, R Fragoso, A Hernández, Z Nazará-Cazorla.   

Abstract

Three sisters with 3-M slender-boned nanism are described. The main features were low birth weight, disproportionate dwarfism, large head for height, triangular-shaped face with wide anteverted nostrils, long philtrum and full lips, short neck, elbow malformation, pes planus with prominent heels, slender bones with thin diaphyses, small pelvis, and mild mental deficiency. Comparative analysis with the eight other cases reported in the literature permits further clinical delineation and the corroboration of autosomal recessive inheritance.

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Year:  1981        PMID: 7197463     DOI: 10.1001/archpedi.1981.02130340017007

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  5 in total

1.  Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

Authors:  M Le Merrer; R Brauner; P Maroteaux
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

2.  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

3.  3M dwarfism: a study of two further sibs.

Authors:  M Feldmann; S Gilgenkrantz; S Parisot; G Zarini; C Marchal
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

4.  The 3-M syndrome: risk of intracerebral aneurysm?

Authors:  R F Mueller; J Buckler; R Arthur; G Bonsor; P Dear; K Walters; G M Towns
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

5.  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 in total

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