Table 1 Summary of clinical manifestation in patients with 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 | Â |
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%) |