Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case
- John Radcliffe Hospital, Oxford (United Kingdom)
- Radcliffe Infirmary NHS Trust, Oxford (United Kingdom)
The nosology of the acrofacial dysostoses was reviewed extensively. The Patterson-Stevenson-Fontaine syndrome (MIM 183700) is a rare variant, characterized by variable oligosyndactyly of the feet, unusual ears, deafness, cleft palate and autosomal dominant inheritance. The original description by Patterson and Stevenson concerned an affected father and son; a second family with four affected individuals (some of whom also had learning difficulties) in three generations was described by Fontaine et al. Opitz et al. stated {open_quotes}A follow-up of these patients is strongly urged....{close_quotes} Recently we reviewed the son originally described by Patterson and Stevenson, who is now an adult (case JL). One of his three sons (case AL) has inherited the same condition. 6 refs., 3 figs.
- OSTI ID:
- 539217
- Journal Information:
- American Journal of Medical Genetics, Vol. 69, Issue 4; Other Information: PBD: 14 Apr 1997
- Country of Publication:
- United States
- Language:
- English
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