Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome
نویسندگان
چکیده
منابع مشابه
Holt-Oram Syndrome: A Rare Variant
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...
متن کاملHolt-Oram Syndrome: A Rare Variant
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...
متن کاملA Case of Holt - Oram Syndrome
SUMMARY Holt Oram Syndrome consisting of upper limb defcts, cardiac anomalies and narrow shoulder, was first described by Holt and Oram in 1960. The inheritance pattern is autosomal dominant and most commonly encoutered cardiac anomalies being ASD, although all variaties of C.H.D are reported. Upper limb anomalies are not specific, although scaphoid bone deformity is almost characteristic in t...
متن کاملGrowing Up with a Mother with Depression: An Interpretative Phenomenological Analysis
The aim of this study was to explore the childhood experience of living with a parent with depression from a retrospective point of view. Five women between 39 and 47 years of age, who grew up with a mother with depression, were interviewed about their current perspectives on their childhood experiences. Interviews were semi-structured and the data were analyzed using interpretative phenomenolo...
متن کاملHolt-Oram syndrome: a clinical genetic study.
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially factors affecting severity. Skeletal def...
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ژورنال
عنوان ژورنال: Disability and Rehabilitation
سال: 2019
ISSN: 0963-8288,1464-5165
DOI: 10.1080/09638288.2019.1697763