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Table 1 Summary of clinical manifestation in patients with 15q24 microdeletion syndrome

From: Chromosome 15q24 microdeletion syndrome

Characteristic Cases
Gender Male - 16/19 (84%)
De novo occurrence 18/18 (100%)
Developmental delay 19/19 (100%)
Growth abnormalities 10/18 (56%)
Low birth weight/IUGR 6/18 (33%)
Short stature 5/18 (28%)
Obesity 3/18 (17%)
Microcephaly 3/18 (17%)
Feeding difficulties 4/18 (22%)
Distinct Facial features 19/19 (100%)
Long face 6/18 (33%)
Facial asymmetry 5/18 (28%)
High anterior hairline 12/18 (67%)
Epicanthal folds 9/18 (50%)
Hypertelorism 8/18 (44%)
Downslanting palpebral fissures 9/18 (50%)
Sparse, broad medial eyebrows 9/18 (50%)
Strabismus 7/18 (39%)
Nystagmus 2/18 (11%)
Broad nasal base 6/18 (33%)
Depressed nasal bridge 5/18 (28%)
High nasal bridge 2/18 (11%)
Ear abnormalities 11/18 (61%)
Palate abnormalities 4/18 (22%)
Long smooth philtrum 10/18 (56%)
Full lower lip 7/18 (39%)
Small mouth 6/18 (33%)
Genital abnormalities 11/18 (61%)
Hypospadias 6/15 (40%)
Microphallus 5/15 (33%)
Cryptorchidism 3/15 (20%)
Digit abnormalities 16/18 (89%)
Thumb abnormalities 7/18 (39%)
Brachydactyly/short digits 6/18 (33%)
Clinodactyly 3/18 (20%)
Toe abnormalities 6/18 (33%)
Skeletal abnormalities 11/18 (61%)
Joint laxity 10/18 (56%)
Scoliosis/kyphosis 6/18 (33%)
Neurologic findings 15/19 (79%)
Hypotonia 11/18 (61%)
Behavior problems 7/19 (37%)
MRI abnormalities 8/18 (44%)
Other features  
Recurrent infections 7/18 (39%)
Hernias 5/19 (26%)
Congenital heart disease 4/18 (22%)
Hearing loss 4/18 (22%)
Diaphragmatic hernia 2/18 (11%)
Intestinal atresia 2/18 (11%)
Imperforate anus 1/18 (6%)
Coloboma 1/18 (6%)
Dental problems 1/18 (6%)
Myelomeningocele 1/18 (6%)