## Abstract A new lethal form of acrofacial dysostosis (AFD) syndrome was delineated by Rodriguez et al. [Rodriguez et al. (1990); Am J Med Genet 35:484–489]. We report on a male fetus with mandibulofacial dysostosis, including phocomelia‐like upper limb deficiencies and lower limb anomalies which
✦ LIBER ✦
Norman–Roberts syndrome: prenatal diagnosis and autopsy findings
✍ Scribed by Consolato Sergi; Saida Zoubaa; Monika Schiesser
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 242 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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## Abstract We report the case of a boy with the Johanson‐Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissu