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Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

✍ Scribed by Alice Hadchouel; Marc Bellaiche; Clarisse Baumann; Gérard Darnaud; Alaa El Ghoneimi; Latifa Ferkdadji; Monique Elmaleh; Alain Verloes

Book ID
116432816
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
502 KB
Volume
48
Category
Article
ISSN
1769-7212

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Short stature, myopia, severe developmen
Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: A new syndrome?
✍ Achermann, Sibylla; Largo, Remo; Kotzot, Dieter; Riegel, Mariluce; Schinzel, Alb 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 2 views

We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes.