Literature DB >> 12697431

Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case.

Katya A Tambe1, S V Ambekar, P N Bafna.   

Abstract

Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.

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Year:  2003        PMID: 12697431     DOI: 10.1016/s1090-3798(03)00017-5

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN: 1090-3798            Impact factor:   3.140


  3 in total

1.  Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

Authors:  U Moog; M C Jones; L M Bird; W B Dobyns
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

2.  Delleman syndrome with Goldenhar overlap.

Authors:  G Samson Sujit Kumar; R P Haran; Vedantam Rajshekhar
Journal:  J Pediatr Neurosci       Date:  2009-01

3.  Delleman Oorthuys syndrome.

Authors:  Syed Wajahat A Rizvi; Mohammed Azfar Siddiqui; Adeeb A Khan; Ziya Siddiqui
Journal:  Middle East Afr J Ophthalmol       Date:  2015 Jan-Mar
  3 in total

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