Autosomal recessive form of whistling face syndrome in sibs
โ Scribed by Dallapiccola, Bruno ;Giannotti, Aldo ;Lembo, Antonio ;Sagui, Luigi
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 362 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0148-7299
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We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). We evaluated 16 affected individuals: 11 males and 5 females. Analysis of the pedigree strongly suggests autosomal recessive inheritance,
Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition. In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syndrome). In another form, brothers may have germ cell aplasia [Granat et