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Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome

✍ Scribed by R.B. Lowry; R. MacLean; D.M. McLean; B. Tischler


Book ID
118536460
Publisher
Elsevier Science
Year
1971
Tongue
English
Weight
998 KB
Volume
79
Category
Article
ISSN
1097-6833

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Microcephaly, colobomatous microphthalmi
✍ MοΏ½garbanοΏ½, AndrοΏ½; Haddad-Zebouni, Soha; Nabbout, Rima; Khoury, Antoine H.; Trabo πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 33 KB πŸ‘ 2 views

We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syn