The importance of early diagnosis is to provide preventive management and an appropriate genetic counseling for the family.
Kabuki syndrome
 
  Keywords
 
 
  
   Craniofacial anomalies
  
 
 
  
   Sparse eyebrows
  
 
 
  
   Long palpebral fissures
  
 
 
  
   Cleft lip/palate
  
 
Abstract
 Introduction
Kabuki syndrome (OMIM: #147 920) presents as large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, dysplastic ears and in most cases, with <dis>mental retardation</dis>.
Patients have minor and major abnormalities in different systems.
Its genetic basis is heterogeneous, but recently has been associated with mutations in gen MLL2.
Case reports
We present two patients with clinical features compatibles with the syndrome, mainly: large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, flat nose, persistent fingertip pads, cardiopathies and renal anomalies.
Commentary
The diagnosis of this condition is clinical.
The characteristics in the cases are compared with the patients reported in the literature.
The importance of early diagnosis is to provide preventive management and an appropriate genetic counseling for the family.
Abstract
 Introduction
Kabuki syndrome (OMIM: #147 920) presents as large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, dysplastic ears and in most cases, with mental retardation.
Patients have minor and major abnormalities in different systems.
Its genetic basis is heterogeneous, but recently has been associated with mutations in gen MLL2.
Case reports
We present two patients with clinical features compatibles with the syndrome, mainly: large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, flat nose, persistent fingertip pads, cardiopathies and renal anomalies.
Commentary
The diagnosis of this condition is clinical.
The characteristics in the cases are compared with the patients reported in the literature.
The importance of early diagnosis is to provide preventive management and an appropriate genetic counseling for the family.
The importance of early diagnosis is to provide preventive management and an appropriate genetic counseling for the family.