Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs

American Journal of Medical Genetics
E O da-Silva

Abstract

This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed.

References

Jan 1, 1978·The Journal of Pediatrics·S K ClarrenD W Smith
Jun 13, 1975·Pediatric Radiology·B P WoodP L Townes
Aug 1, 1986·Journal of Medical Genetics·E M ThompsonS C Smith
Nov 1, 1986·Clinical Genetics·A Schinzel, U Kaufmann
Sep 1, 1973·Journal of Medical Genetics·Y Shapira, T Cohen
Jan 1, 1973·Acta Radiologica: Diagnosis·F P Probst
Apr 1, 1969·The Journal of Pediatrics·R L Summitt, B E Favara
Aug 1, 1968·Neurology·J D Loeser, E C Alvord
Jan 1, 1969·Brain : a Journal of Neurology·W R ShapiroF Plum
Oct 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·M J KatzJ Silver
Dec 1, 1983·American Journal of Medical Genetics·R F MuellerC P Naylor
Apr 1, 1983·Journal of Medical Genetics·P Kaplan
Jan 1, 1984·The Journal of Pediatrics·P BannisterM D Penney
Jun 1, 1982·American Journal of Medical Genetics·M M Nelson, A J Thomson
Jul 1, 1982·The Journal of Heredity·D Wahlsten
Feb 1, 1980·The Journal of Pediatrics·J Willis, N P Rosman
Feb 1, 1980·Journal of Medical Genetics·G ZamboniB Dalla Bernardina
Jul 1, 1980·Archives of Neurology·R B LynnF R Freemon
Aug 1, 1955·A.M.A. Archives of Neurology and Psychiatry·J NAIMAN, F C FRASER

Citations

Feb 1, 1994·American Journal of Medical Genetics·K NaritomiK Hirayama
Nov 15, 1992·American Journal of Medical Genetics·W M KangS J Lin

Related Concepts

Multiple Congenital Anomalies
Conditions, Recessive Genetic
Profound Mental Retardation
Microlissencephaly
Tomography, X-Ray Computerized Axial
Corpus Callosum Malformation

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