Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia
✍ Scribed by Anner�n, G�ran; Meurling, Staffan; Lilja, Helene; Wallander, Johan; von D�beln, Ulrika
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 11 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980707)78:3<306::aid-ajmg22>3.0.co;2-i
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in
We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic synd
The paper by prompted us to report the case of a family in which three children from a consanguineous marriage were affected by Thomas syndrome (Potter sequence with cleft lip/palate and cardiac anomalies). The parents were an Egyptian consanguineous couple who had had 3 pregnancies. The first pre