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Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes
- Source :
- American Journal of Medical Genetics. 66:69-71
- Publication Year :
- 1996
- Publisher :
- Wiley, 1996.
-
Abstract
- We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.
- Subjects :
- medicine.medical_specialty
Omphalocele
genetic structures
Heart disease
business.industry
medicine.disease
Dermatology
humanities
Congenital lymphedema
body regions
Facial appearance
Endocrinology
Lymphedema
hemic and lymphatic diseases
Internal medicine
mental disorders
Hydrocele
Speech delay
medicine
Sibling
medicine.symptom
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 66
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi...........96f73613b64ae06b58698d162cf4f297