Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.

TitleMicrocephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.
Publication TypeJournal Article
Year of Publication1996
AuthorsVerloes A, Lesenfants S, Philippet B, Iyawa A, Laloux F, Koulischer L
JournalGenetic counseling (Geneva, Switzerland)
Volume7
Issue4
Pagination277-82
Date Published1996
Abstract

We report a boy who shows a severe microcephalyi, with mild mental retardation and hypotonia, and a dysmorphic faciesi: (flat profile, arched eyebrows, mild ptosisi, short nose with raised basis, large tip and antevertedi nares, long, smooth philtrumi, narrow mouth with down turned corners, very large, backward tilted ears, with a prominent lobule, retrognathism and very small and widely spaced, although normally shaped teeth. Vesicoureteral refluxi was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotypei which share some resemblance to mild Cornelia de Lange and Kabuki syndromes.

Alternate JournalGenet. Couns.
Citation Key8985731