Fig. 1From: A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency a Dismorphic features of the patient at 7.5 years of age. Microcephaly, triangular face, high forehead, protruding low set ears, micrognathia, esotropia, epicanthus, right palpebral ptosis are shown. b Height curve of the subject. The arrow indicates the start of GH substitutive therapyBack to article page