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Coffin-Siris Syndrome

Coffin-Siris Syndrome Abstract Sir.—We were interested in the report in the Journal (132:393-395, 1978) by Tunnessen et al on Coffin-Siris syndrome. During the past two years we have seen three cases suggestive of this condition. Report of Cases.—A 4-year-old boy was severely microcephalic but lacked any nail abnormalities. His 3-year-old sister had markedly hypoplastic toenails. Both siblings had coarse facial features, short stature, and mental retardation. Their hand pattern profiles were similar to those of two of the original cases reported by Coffin and Siris (Figure).1 Their mother appeared to be mentally retarded, and the father had an unusually small head and was of less than average mental ability. The third patient lacked the characteristic facial features but had absent nails with hypoplasia of the terminal phalanges of the fifth digits. She was born prematurely, but her size was appropriate for gestational NORM 1234512345234512345 Metacarpal Proximal Middle Distal References 1. Hayes M, Say B: Hand pattern profile analysis (HPPA) . Clin Pediatr 16:988-991, 1977.Crossref 2. Senior B: Impaired growth and onychodysplasia . Am J Dis Child 122:7-9, 1971.Crossref 3. Smith D: Compendium on shortness of stature . J Pediatr 70:463-519, 1967.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Coffin-Siris Syndrome

BARBER, N.; SAY, B.
American Journal of Diseases of Children , Volume 132 (10) – Oct 1, 1978
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Coffin-Siris Syndrome

Abstract

Abstract Sir.—We were interested in the report in the Journal (132:393-395, 1978) by Tunnessen et al on Coffin-Siris syndrome. During the past two years we have seen three cases suggestive of this condition. Report of Cases.—A 4-year-old boy was severely microcephalic but lacked any nail abnormalities. His 3-year-old sister had markedly hypoplastic toenails. Both siblings had coarse facial features, short stature, and mental retardation. Their hand pattern profiles were similar to...
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References (5)

Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120350112028
Publisher site
See Article on Publisher Site

Abstract

Abstract Sir.—We were interested in the report in the Journal (132:393-395, 1978) by Tunnessen et al on Coffin-Siris syndrome. During the past two years we have seen three cases suggestive of this condition. Report of Cases.—A 4-year-old boy was severely microcephalic but lacked any nail abnormalities. His 3-year-old sister had markedly hypoplastic toenails. Both siblings had coarse facial features, short stature, and mental retardation. Their hand pattern profiles were similar to those of two of the original cases reported by Coffin and Siris (Figure).1 Their mother appeared to be mentally retarded, and the father had an unusually small head and was of less than average mental ability. The third patient lacked the characteristic facial features but had absent nails with hypoplasia of the terminal phalanges of the fifth digits. She was born prematurely, but her size was appropriate for gestational NORM 1234512345234512345 Metacarpal Proximal Middle Distal References 1. Hayes M, Say B: Hand pattern profile analysis (HPPA) . Clin Pediatr 16:988-991, 1977.Crossref 2. Senior B: Impaired growth and onychodysplasia . Am J Dis Child 122:7-9, 1971.Crossref 3. Smith D: Compendium on shortness of stature . J Pediatr 70:463-519, 1967.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: Oct 1, 1978

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