Literature DB >> 1552551

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

S Lyonnet1, G Schwartz, G Gatin, Y de Prost, A Munnich, M Le Merrer.   

Abstract

The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.

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Year:  1992        PMID: 1552551      PMCID: PMC1015828          DOI: 10.1136/jmg.29.1.68

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


  10 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

Review 2.  Dubowitz syndrome: possible evidence for a clinical subtype.

Authors:  H G Ilyina; I W Lurie
Journal:  Am J Med Genet       Date:  1990-04

3.  The Dubowitz syndrome.

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

4.  The Dubowitz syndrome.

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

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: a retrospective.

Authors:  K T Moller; R J Gorlin
Journal:  J Craniofac Genet Dev Biol Suppl       Date:  1985

7.  Dubowitz syndrome.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 8.  The Dubowitz syndrome: further observations.

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

9.  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

10.  The Dubowitz syndrome: the psychological status of ten cases at follow-up.

Authors:  J M Parrish; R S Wilroy
Journal:  Am J Med Genet       Date:  1980
  10 in total
  3 in total

1.  Co-existence of Dubowitz and hyper-IgE syndromes: a case report.

Authors:  K Antoniades; M Hatzistilianou; G Pitsavas; C Agouridaki; F Athanassiadou
Journal:  Eur J Pediatr       Date:  1996-05       Impact factor: 3.183

2.  Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

Authors:  Maria Elisa Amodeo; Elena Inzaghi; Annalisa Deodati; Stefano Cianfarani
Journal:  Mol Genet Genomic Med       Date:  2021-03-31       Impact factor: 2.183

3.  Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

Authors:  Andrea Ballini; Stefania Cantore; Domenica Tullo; Apollonia Desiate
Journal:  J Med Case Rep       Date:  2011-01-27
  3 in total

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