A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

TitleA diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?
Publication TypeJournal Article
Year of Publication2004
AuthorsGalán-Gómez E, Carbonell-Pérez JM, Cardesa-García JJ, Val-Sánchez de León JM, Campo-Sampedro FM, Martínez-Frías ML, Frías JL
JournalAmerican journal of medical genetics. Part A
Volume125A
Issue3
Pagination306-9
Date Published2004 Mar 15
Abstract

We report two siblings, a boy and a girl, with a constellation of anomalies that overlap the phenotypes of Kabuki and Malpuech syndromes. Both patients had a facial appearance suggestive of Kabuki syndrome, sagittal vertebral clefts, and short fifth fingers. In addition, the girl had brachydactylyi of the index finger, and the boy, cleft lip and palate, mild postnatal growth deficiency, coarctationi of the aortai, ventricular septal defecti, patenti ductus arteriosusi, and a caudal appendage. The fact that this pattern of anomalyi occurred in siblings, together with the presence of sparse eyebrows medially, rather than laterally, in both patients and a caudal appendage in the boy, militates against the diagnosis of Kabuki syndrome. Furthermore, the presence of a caudal appendage in a child with cleft lip and cleft palatei and renali abnormalities is suggestive of Malpuech syndrome. The normal growth pattern and psychomotor development observed in both children, however, is inconsistent with this diagnosis, although they may represent a milder end of the phenotypic spectrum for Malpuech syndrome. Alternatively, we conclude that the condition may represent a distinct multiple congenitali anomaly (MCA) syndrome. The occurrence of a pattern of MCA in two siblings with phenotypically normal parents and normal cytogenetic studies, including high-resolution banding and subtelomeric probes, points toward an autosomal recessive mode of inheritance. However, germinal mosaicism and other types of non-traditional inheritance, such as a defect in genomic imprinting or uniparental disomy, should also be considered.

Alternate JournalAm. J. Med. Genet. A
Citation Key14994242