Literature DB >> 835533

A syndrome of microcephaly and cataracts in four siblings. A new genetic syndrome?

A B Scott-Emuakpor, J Heffelfinger, J V Higgins.   

Abstract

We describe a syndrome of microcephaly, with extreme failure to thrive, (severe spasticity), kyphoscollosis, cataracts, and hip dysplasia in four siblings. The syndrome could be a new one, although it has several features resembling those described by Lowry et al. It is suggested that this syndrome is inherited as an autosomal-recessive condition.

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Mesh：

Year:  1977        PMID： 835533     DOI： 10.1001/archpedi.1977.02120150049010

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


  5 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

3.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

4.  Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

Authors:  R M Winter; D Donnai; M D Crawfurd
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

5.  A possible cranio-oro-facial phenotype in Cockayne syndrome.

Authors:  Agnès Bloch-Zupan; Morgan Rousseaux; Virginie Laugel; Matthieu Schmittbuhl; Rémy Mathis; Emmanuelle Desforges; Mériam Koob; Ariane Zaloszyc; Hélène Dollfus; Vincent Laugel
Journal:  Orphanet J Rare Dis       Date:  2013-01-14       Impact factor: 4.123
  5 in total

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