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288
Al.
289
Case reports
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290
Case reports
Facial features
Cleft palate
Preauricular skin tags and/or fistulae
Microcephaly
Micrognathia
Low-set ears
Elongated philtrum
Iris coloboma ('cat eye')
Other
Growth and mental retardation
Congenital heart anomalies
Hypotonia at birth or infancy
Hip abnormalities
Failure to thrive
Low-placed nipples
Long, slender fingers and/or finger-like
thumbs
Inguinal hernia
13/18
11/18
11/18
11118
11/18
4/18
0/18
17/18
13/18
7/18
6/18
7/18
5/18
Present
case
+
-
+
+
+
+
6/18
4/18
Discussion