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Congenital ichthyosis, mental retardation, dwarfism and renal impairment: A new syndrome

✍ Scribed by J. H. Passwell; R. M. Goodman; M. Ziprkowski; B. E. Cohen


Book ID
119838315
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
462 KB
Volume
8
Category
Article
ISSN
0009-9163

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We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna