In 1995, Tsukahara et al. reported on a 9-yearold boy with radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation, a previously unreported syndrome. We now describe an 8-year-old Israeli Arab girl who appears to have the same condition. Her parents were first cousins,
Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: A new syndrome?
β Scribed by Samson, Greg; Gardner, Jessica C.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 24 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19960111)61:2<174::aid-ajmg15>3.0.co;2-r
No coin nor oath required. For personal study only.
β¦ Synopsis
We describe a growth-retarded newborn infant with craniosynostosis, microcephaly, hydrancephaly, oligodactyly, humero-radial synostosis, and normal chromosomes. The combination of anomalies has hitherto been unreported and we consider this to be a "new" syndrome.
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We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or
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