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Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity
Author(s) -
Silengo M. Cirillo,
Bell G. Lopez,
Biagioli M.,
Guala A.,
Bianco R.,
Strandoni P.,
Sario P. N. De,
Franceschini P.
Publication year - 1986
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.1399-0004.1986.tb01915.x
Subject(s) - microcephaly , crying , failure to thrive , pediatrics , heart defect , psychology , medicine , heart disease , psychiatry
An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.