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A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report
- Source :
- Ophthalmic paediatrics and genetics. 12(4)
- Publication Year :
- 1991
-
Abstract
- The authors describe a girl with retarded growth, renal malformations, retinal coloboma and hypoplasia of the thumbs like reported in the acro-renal-ocular syndrome. In addition, they found defects of the ribs and spine and cleft palate, not previously described in this syndrome. The was noted to have minor anomalies of the hands, which might represent a mild manifestation of this autosomal dominant syndrome.
- Subjects :
- musculoskeletal diseases
medicine.medical_specialty
Renal ocular syndrome
Retinal coloboma
Ribs
Kidney
Retina
Thoracic Vertebrae
Clinical report
medicine
Humans
Abnormalities, Multiple
Genetics (clinical)
Coloboma
Rib cage
business.industry
Infant
Anatomy
medicine.disease
Dermatology
Hypoplasia
Cleft Palate
Ophthalmology
medicine.anatomical_structure
Thumb
Pediatrics, Perinatology and Child Health
Thoracic vertebrae
Female
business
Subjects
Details
- ISSN :
- 01676784
- Volume :
- 12
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Ophthalmic paediatrics and genetics
- Accession number :
- edsair.doi.dedup.....a56139999eb24b38734e01b385c353ca