| Autor: |
C, Ruiz de la Cuesta-Martín, S, Abio-Albero, O, García-Bodega, S, Rite-Gracia, J, López-Pisón, F, Vera-Cristóbal, A, Marco-Tello, V, Rebage |
| Rok vydání: |
2004 |
| Předmět: |
|
| Zdroj: |
Revista de neurologia. 38(11) |
| ISSN: |
0210-0010 |
| Popis: |
Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical.Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation.We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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