Literature DB >> 2051454

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

M Le Merrer1, R Brauner, P Maroteaux.   

Abstract

Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because of consanguinity in three of the four sibships. Some overlap with the 3-M syndrome is discussed but the autonomy of the gloomy face syndrome seems to be real.

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Year:  1991        PMID: 2051454      PMCID: PMC1016803          DOI: 10.1136/jmg.28.3.186

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  11 in total

1.  The 3-M syndrome: a heritable low birthweight dwarfism.

Authors:  J D Miller; V A McKusick; P Malvaux; S Temtamy; C Salinas
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Reevaluation of Russell-Silver syndrome.

Authors:  H M Saal; R A Pagon; M G Pepin
Journal:  J Pediatr       Date:  1985-11       Impact factor: 4.406

3.  3-M syndrome.

Authors:  D B Flannery
Journal:  Am J Med Genet       Date:  1989-02

4.  The 3-M syndrome. A heritable low birthweight dwarfism.

Authors:  H Van Goethem; P Malvaux
Journal:  Helv Paediatr Acta       Date:  1987-10

5.  [Familial dwarfism with disproportionately high vertebral bodies].

Authors:  W Fuhrmann; E Nägele; R Gugler; E Adili
Journal:  Humangenetik       Date:  1972

6.  Heterozygous expression in 3-M slender-boned nanism.

Authors:  D García-Cruz; J M Cantú
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

Review 7.  Further delineation of the 3-M syndrome with review of the literature.

Authors:  R C Hennekam; J B Bijlsma; J Spranger
Journal:  Am J Med Genet       Date:  1987-09

8.  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

9.  3-M slender-boned nanism. An intrauterine growth retardation syndrome.

Authors:  J M Cantú; D García-Cruz; J Sánchez-Corona; R Fragoso; A Hernández; Z Nazará-Cazorla
Journal:  Am J Dis Child       Date:  1981-10

10.  A new familial intrauterine growth retardation syndrome the "3-M syndrome".

Authors:  J Spranger; J M Opitz; A Nourmand
Journal:  Eur J Pediatr       Date:  1976-09-01       Impact factor: 3.183

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  2 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.  3M syndrome: a report of four cases in two families.

Authors:  Ayla Güven; Ayşe Nurcan Cebeci
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011
  2 in total

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