Literature DB >> 3709570

The Dubowitz syndrome.

W Küster, F Majewski.   

Abstract

The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.

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Year:  1986        PMID: 3709570     DOI: 10.1007/bf00496039

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


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

Authors:  F Majewski; R Michaelis; K Moosmann; J R Bierich
Journal:  Z Kinderheilkd       Date:  1975-11-13

3.  The Dubowitz syndrome.

Authors:  R S Wilroy; R E Tipton; R L Summitt
Journal:  Am J Med Genet       Date:  1978

4.  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

5.  The Dubowitz syndrome.

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

Review 6.  The Dubowitz syndrome: further observations.

Authors:  W W Orrison; E R Schnitzler; R W Chun
Journal:  Am J Med Genet       Date:  1980

7.  Aplastic anemia in Dubowitz syndrome.

Authors:  T R Walters; F Desposito
Journal:  J Pediatr       Date:  1985-04       Impact factor: 4.406

8.  [Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)].

Authors:  O Sauer; G Spelger
Journal:  Monatsschr Kinderheilkd       Date:  1977-10

9.  [Dubowitz syndrome and acute lymphatic leukemia].

Authors:  H Gröbe
Journal:  Monatsschr Kinderheilkd       Date:  1983-07       Impact factor: 0.323

10.  Brief clinical report: the Dubowitz syndrome in a teenager.

Authors:  J P Fryns; G Fabry; F Willemyns; H Van Den Berghe
Journal:  Am J Med Genet       Date:  1979
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  3 in total

1.  Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Authors:  S Lyonnet; G Schwartz; G Gatin; Y de Prost; A Munnich; M Le Merrer
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

2.  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

3.  Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Authors:  Jennifer J Johnston; Kuo-Kuang Wen; Kim Keppler-Noreuil; Melissa McKane; Jessica L Maiers; Alexander Greiner; Julie C Sapp; Kris A Demali; Peter A Rubenstein; Leslie G Biesecker
Journal:  Hum Mutat       Date:  2013-05-28       Impact factor: 4.878

  3 in total

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