We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormal
Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome
✍ Scribed by Kj�r, Inger; Fischer Hansen, Birgit; Kj�r, Klaus W.; Skovby, Flemming
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 24 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000228)90:5<386::aid-ajmg8>3.0.co;2-m
No coin nor oath required. For personal study only.
✦ Synopsis
We report on a radiographically examined fetus (gestational age 13 weeks) with Crouzon syndrome caused by a mutation in the gene encoding the fibroblast growth factor 2 (FGFR2). We found an approximately 2-week delay in vertebral body and hand ossification with normal vertebral arch ossification, suggesting that regionally delayed skeletal maturation might be a manifestation of FGFR2 mutation syndromes. The findings support other studies indicating that different signaling pathways control skeletal maturation in vertebral bodies and vertebral arches.
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