Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father)

Zeitschrift Für Kinderheilkunde
G Neuhäuser, J M Opitz

Abstract

The McDonough syndrome is a "new" MCA/MR syndrome which was found in 3 children (1 girl, 2 boys) of non-consanguineous parents. The affected children were mentally retarded (IQ 47--67) and had congenital heart defect, sternal deformity, kyphosis and craniofacila anomalies (anteverted auricles, upward slanted palpebral fissures, squint); cryptorchidism was present in the 2 boys. In addition a possible VFDP is postulated as the explanation for similar features in affected and unaffected siblings and parents. However, the McDonough syndrome may be an autosomal recessive trait with minor manifestations in heterozygotes. The klinefelter syndrome in one affected boy and a 46,XY/47,XXY chromosome constitution in the father was a coincidental finding.

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Citations

Jun 11, 1992·American Journal of Medical Genetics·J K BrooksP J Coccaro
Jan 1, 1979·American Journal of Medical Genetics·K BenirschkeJ W Spranger
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Apr 1, 1990·International Journal of Oral and Maxillofacial Surgery·M M Cohen

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