Literature DB >> 976277

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

J Spranger, J M Opitz, A Nourmand.   

Abstract

Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.

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Year:  1976        PMID: 976277     DOI: 10.1007/BF00442641

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  20 in total

1.  FAMILIAL LOW BIRTHWEIGHT DWARFISM WITH AN UNUSUAL FACIES AND A SKIN ERUPTION.

Authors:  V DUBOWITZ
Journal:  J Med Genet       Date:  1965-03       Impact factor: 6.318

2.  The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases.

Authors:  J M Tanner; H Lejarraga; N Cameron
Journal:  Pediatr Res       Date:  1975-08       Impact factor: 3.756

3.  [A new (brachymelic) type of primordial dwarfism (author's transl)].

Authors:  F Majewski; J Spranger
Journal:  Monatsschr Kinderheilkd       Date:  1976-06

4.  Seckel's bird-headed dwarfism.

Authors:  V A McKusick; M Mahloudji; M H Abbott; R Lindenberg; D Kepas
Journal:  N Engl J Med       Date:  1967-08-10       Impact factor: 91.245

5.  Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations.

Authors:  J M Opitz; R A Pfeiffer; J P Hermann; T Kushnick
Journal:  Z Kinderheilkd       Date:  1973-12-12

6.  The lateral facial profile of the Silver-Russell dwarf.

Authors:  N Fitch; L Pinsky
Journal:  J Pediatr       Date:  1972-05       Impact factor: 4.406

7.  [International nomenclature of constitutional diseases of bones].

Authors: 
Journal:  Ann Radiol (Paris)       Date:  1970

8.  A form of bird-headed dwarfism with features of premature senility.

Authors:  N Fitch; L Pinsky; R C Lachance
Journal:  Am J Dis Child       Date:  1970-09

9.  The Russell-Silver syndrome: report of three siblings.

Authors:  D S Fuleihan; V M Der Kaloustian; S S Najjar
Journal:  J Pediatr       Date:  1971-04       Impact factor: 4.406

10.  The relationship of the rate of intrauterine growth of low-birth-weight infants to later growth.

Authors:  G J Beck; B J van den Berg
Journal:  J Pediatr       Date:  1975-04       Impact factor: 4.406

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  10 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.  A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Authors:  Céline Huber; Anee-Lise Delezoide; Fabien Guimiot; Clarisse Baumann; Valérie Malan; Martine Le Merrer; Daniela Bezerra Da Silva; Dominique Bonneau; Pierre Chatelain; Carol Chu; Robin Clark; Helen Cox; Patrick Edery; Thomas Edouard; Virginia Fano; Kate Gibson; Gabriele Gillessen-Kaesbach; Maria-Luisa Giovannucci-Uzielli; Luitgard Margarete Graul-Neumann; Johana-Maria van Hagen; Liselot van Hest; Dafne Horovitz; Judith Melki; Carl-Joachim Partsch; Henry Plauchu; Anna Rajab; Massimiliano Rossi; David Sillence; Elisabeth Steichen-Gersdorf; Helen Stewart; Sheila Unger; Martin Zenker; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2008-10-29       Impact factor: 4.246

4.  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

5.  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

Review 6.  Stunted growth with more or less normal appearance.

Authors:  J R Bierich; H Enders; U Heinrich; R Huenges; M B Ranke; D Schoenberg
Journal:  Eur J Pediatr       Date:  1982-12       Impact factor: 3.183

7.  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

8.  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

9.  3M syndrome: a report of four cases in two families.

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

10.  3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy.

Authors:  A Deeb; O Afandi; S Attia; A El Fatih
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2015-04-01
  10 in total

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