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Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies
Author(s) -
Cantú J. M.,
SanchezCorona J.,
Hernándes A.,
Nazará Z.,
GarcfaCruz D.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01431.x
Subject(s) - hypertelorism , short stature , exophthalmos , medicine , anatomy , rib cage , forehead , mental deficiency , pediatrics , surgery , psychiatry
The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non‐consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.