[Diagnosis of familial Holt-Oram syndrome]. / Diagnose eines familiären Holt-Oram Syndroms.
Z Geburtshilfe Perinatol
; 198(4): 143-9, 1994 Aug.
Article
en De
| MEDLINE
| ID: mdl-7975801
ABSTRACT
Presented is one rare case in a family affected by a Holt- Oram-Syndrome. This syndrome is associated with an upper limb malformation and a congenital heart disease. In our case we found radiusaplasia on both sides, thenaraplasia on the left hand, a hypoplastic thumb on the right hand. The heart was malformed as a Fallot tetralogy, the left kidney was absent. Four additional affected members of the family are described. By routine ultrasound examination we could not find this malformation syndrome. In families with affected history ultrasound screening examination should be done on a center for prenatal diagnosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Radio (Anatomía)
/
Tetralogía de Fallot
/
Anomalías Múltiples
/
Deformidades Congénitas de la Mano
/
Ectromelia
/
Riñón
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
De
Revista:
Z Geburtshilfe Perinatol
Año:
1994
Tipo del documento:
Article