Literature DB >> 8305962

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.

G Camera1, A Centa, S Pozzolo, A Camera.   

Abstract

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

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Year:  1993        PMID: 8305962

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


  2 in total

Review 1.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

2.  Peter Plus Syndrome: A Neurosurgeon's Perspective.

Authors:  Deepak Khatri; Jaskaran S Gosal; Kuntal K Das; Kamlesh S Bhaisora
Journal:  J Pediatr Neurosci       Date:  2019-09-27
  2 in total

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