Doo syndrome is neurosensorial deafness, onychoosteodystrophy and absence of neurological alterations, which are characteristics of Door syndrome. These syndromes are extremely rate, only 14 cases of Door and 4 cases of Doo are reported in literature. Their rarity induced us to present a clinical case. After a review of literature, we discuss difficulties in differential diagnosis and classification, and genetic transmission patterns.
|Translated title of the contribution||Doo syndrome (deafness-onychoosteodystrophy). Case report - Literature's review|
|Number of pages||6|
|Publication status||Published - 1994|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health