Literature DB >> 7537583

Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: a new entity?

C Jung1, G Wolff, E Back, M Stahl.   

Abstract

Two unrelated children with developmental delay, anterior chamber-cleavage disorder, proportionate short stature and striking similarity in facial appearance appear to have an identical syndrome. Peters' plus syndrome has to be considered but additional abnormalities not described in this syndrome and their apparently different facies may be evidence for a hitherto undescribed condition. The further malformations both children have in common are cerebellar hypoplasia, hypothyroidism, tracheostenosis and dislocated hips.

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Mesh:

Year:  1995        PMID: 7537583

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

Review 1.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

2.  Peters' anomaly - anaesthetic management.

Authors:  Senthilkumar M; Darlong V; Jyotsna Punj; Ravinder Pandey
Journal:  Indian J Anaesth       Date:  2009-08

3.  Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

Authors:  H L Peters; A Bankier
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

  3 in total

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