Literature DB >> 242126

A rare type of low birthweight dwarfism: the Dubowitz syndrome.

F Majewski, R Michaelis, K Moosmann, J R Bierich.   

Abstract

Two patients with the Dubowitz syndrome are presented. This presumably recessive inherited syndrome was first defined by Grosse et al. (1971). So far 11 patients with this syndrome have been described. Major clinical findings are intrauterine and postnatal growth retardation, considerable microcephaly, mild mental retardation, hyperactivity, hyperextensibility of joints, eczema and a characteristic appearance of the face due to marked epicanthic folds, blepharophimosis, broadening of the bridge and tip of the nose and retrognathia. Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen. The exclusion of the non genetic fetal alcohol syndrome presents serious diagnostic problems.

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Year:  1975        PMID: 242126     DOI: 10.1007/bf00440267

Source DB:  PubMed          Journal:  Z Kinderheilkd        ISSN: 0044-2917


  9 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.  Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.

Authors:  H K SILVER; W KIYASU; J GEORGE; W C DEAMER
Journal:  Pediatrics       Date:  1953-10       Impact factor: 7.124

3.  Pattern of malformation in offspring of chronic alcoholic mothers.

Authors:  K L Jones; D W Smith; C N Ulleland; P Streissguth
Journal:  Lancet       Date:  1973-06-09       Impact factor: 79.321

4.  [Silver-Russell syndrome and other forms of intrauterine dwarfism].

Authors:  J R Bierich
Journal:  Monatsschr Kinderheilkd       Date:  1973-07

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 Dubowitz syndrome.

Authors:  R Grosse; J Gorlin; J M Opitz
Journal:  Z Kinderheilkd       Date:  1971

7.  Head circumference from birth to eighteen years. Practical composite international and interracial graphs.

Authors:  G Nellhaus
Journal:  Pediatrics       Date:  1968-01       Impact factor: 7.124

8.  Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.

Authors:  J German
Journal:  Am J Hum Genet       Date:  1969-03       Impact factor: 11.025

9.  Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I.

Authors:  J M Tanner; R H Whitehouse; M Takaishi
Journal:  Arch Dis Child       Date:  1966-10       Impact factor: 3.791

  9 in total
  4 in total

1.  The Dubowitz syndrome.

Authors:  W Küster; F Majewski
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

2.  The diagnosis of Dubowitz syndrome in the neonatal period--a case report.

Authors:  A Shuper; P Merlob; R Weitz; I Varsano
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

3.  [On the embryo-fetal alcohol syndrome (author's transl)].

Authors:  J R Bierich; F Majewski; R Michaelis; I Tillner
Journal:  Eur J Pediatr       Date:  1976-02-04       Impact factor: 3.183

4.  Fatal aplastic anaemia in a child with features of Dubowitz syndrome.

Authors:  F Berthold; W Fuhrmann; F Lampert
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

  4 in total

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