Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings

Familial occurrence of a syndrome with m

✍ N. Niikawa; I. Matsuda; T. Ohsawa; T. Kajii 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 271 KB

Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hyp9plasia, peripheral dysostosis, and blue eyes. The mother showed nasal hyp9plasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity