Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.
We report a boy who shows a severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, arched eyebrows, mild ptosis, short nose with raised basis, large tip and anteverted nares, long, smooth philtrum, 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 reflux was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotype which share some resemblance to mild Cornelia de Lange and Kabuki syndromes.
Verloes
A
A
Centre for Human Genetics, Liège University, Belgium.
Lesenfants
S
S
Philippet
B
B
Iyawa
A
A
Laloux
F
F
Koulischer
L
L
D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008831:Microcephaly / Q000150:complications*; D010641:Phenotype; D063173:Retrognathia / Q000150:complications; D013577:Syndrome