1.
Acta pediatr. esp
; 67(8): 393-395, sept. 2009. ilus
Article
in Spanish
| IBECS
| ID: ibc-75919
ABSTRACT
Se comunica el caso de un niño con el síndrome de Saethre-Chotzen (acrocefalosindactilia de tipo III), una de las craneosinostosis más frecuentes, y se describe la mutación causal en el gen TWIST (AU)
It is informed of a child with the Saethre-Chotzen syndrome (acrocephalosyndactylia of type III), one of the most frequent craniosynostosis, and it is described as a causal mutation in the TWIST gene (AU)
Subject(s)
Humans , Male , Child, Preschool , Craniosynostoses/complications , Craniosynostoses/diagnosis , Craniosynostoses/epidemiology , Craniosynostoses/etiology , Craniosynostoses/surgery , Craniosynostoses/therapy , Twist-Related Protein 1 , Acrocephalosyndactylia , Acrocephalosyndactylia/diagnosis , Acrocephalosyndactylia/epidemiology , Acrocephalosyndactylia/etiology , Acrocephalosyndactylia/surgery , Acrocephalosyndactylia/therapy
2.
Acta pediatr. esp
; 65(6): 309-309, jun. 2007. tab
Article
in Es
| IBECS
| ID: ibc-055303
ABSTRACT
No disponible
No disponible
Subject(s)
Male , Female , Child , Humans , Diabetic Ketoacidosis/epidemiology , Mass Screening , Diabetes Mellitus, Type 1/complications , Diabetic Ketoacidosis/prevention & control , Diabetes Mellitus, Type 1/physiopathology
3.
An Pediatr (Barc)
; 66(3): 329-30, 2007 Mar.
Article
in Spanish
| MEDLINE
| ID: mdl-17349270
Subject(s)
Facies , Hypopigmentation/diagnosis , Mosaicism , Child , Female , Humans , Hypopigmentation/genetics , Karyotyping
4.
Lesiones cutáneas hipopigmentadas y facies particular / Hypopigmented skin lesions and coarse facies
An. pediatr. (2003, Ed. impr.)
; 66(3): 329-330, mar. 2007. ilus
Article
in Es
| IBECS
| ID: ibc-054398
ABSTRACT
No disponible
Subject(s)
Female , Child , Humans , Hypopigmentation/complications , Hypopigmentation/diagnosis , Facial Asymmetry/complications , Mosaicism/diagnosis , Mosaicism/genetics , Autistic Disorder/complications , Mosaicism/pathology , Mosaicism/physiopathology , Melanosis/complications , Cytogenetics/methods , Cytogenetic Analysis/methods
5.
An Pediatr (Barc)
; 65(1): 87-8, 2006 Jul.
Article
in Spanish
| MEDLINE
| ID: mdl-16945298
6.
An. pediatr. (2003, Ed. impr.)
; 65(1): 87-88, jul. 2006. ilus
Article
in Es
| IBECS
| ID: ibc-048694
ABSTRACT
No disponible
Subject(s)
Male , Infant , Humans , Celiac Disease/diagnosis , Cholecystitis, Acute/etiology , Cholecystolithiasis/etiology , Celiac Disease/complications
7.
An Pediatr (Barc)
; 62(5): 488, 2005 May.
Article
in Spanish
| MEDLINE
| ID: mdl-15871840
Subject(s)
Foreign Bodies/diagnostic imaging , Foreign Bodies/surgery , Accidental Falls , Child , Foreign Bodies/complications , Humans , Male , Metals , Pain/etiology , Radiography
8.
An. pediatr. (2003, Ed. impr.)
; 62(5): 488-488, mayo 2005. ilus
Article
in Es
| IBECS
| ID: ibc-037998
ABSTRACT
No disponible
