A second family with renal, vaginal, and middle ear anomalies
β Scribed by Gillian Turner
- Book ID
- 118536348
- Publisher
- Elsevier Science
- Year
- 1970
- Tongue
- English
- Weight
- 66 KB
- Volume
- 76
- Category
- Article
- ISSN
- 1097-6833
No coin nor oath required. For personal study only.
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We report on a family in which 3 sibs were affected with conductive deafness, bilateral preauricular and commissural lip pits, monolateral branchial fistula, and rib anomalies. On the basis of parental consanguinity, lack of clinical variability and affected subjects of both sexes, this condition se
It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal