Familial mandibuloacral dysplasia: Report of an additional Italian patient
โ Scribed by Tudisco, C. ;Canepa, G. ;Novelli, G. ;Dallapiccola, B.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 619 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
We report on a patient with malformations following long-term and high-dose maternal fluconazole use during pregnancy. The patient had exorbitism, a large pear-shaped nose, ''dysplastic'' ears, and radiohumeral synostosis. He is similar to three previously reported patients with in utero exposure to
## Abstract [Nguyen et al. (2003); Am J Med Genet 121A: 109โ112] reported a boy with severe hypocholesterolemia due to autosomal dominant hypobetalipoproteinemia (ADBHL) associated with severe growth retardation, mental deficiency, epicanthal folds, a short nose with low nasal bridge and anteverted