Table 1 Clinical features of the presented cases compared with patients with 9q subtelomeric deletion presented by Kleefstra et al.
From: Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
Features | Kleefstra et al. [8] | Patient 1 | Patient 2 |
|---|---|---|---|
Gender | … | - | + |
MR | 28/28 (100) | + | + |
Obesity | 5 (16) | - | - |
Microcephaly | 25 (83) | - | + |
Brachycephaly | 12 (33) | - | - |
Flat face | 5 (16) | + | + |
Midface hypoplasia | 16 (53) | + | + |
Coarse facies | 8 (27) | - | - |
Hypertelorism | 15 (50) | - | + |
Synophrys | 16 (53) | - | - |
Down slant palpebral fissures | 6 (20) | + | - |
Up slant palpebral fissures | 5 (16) | - | + |
Arched eyebrows | 8 (27) | - | - |
Short nose | 17 (57) | + | + |
Anteverted nostrils | 12 (33) | - | - |
Carp mouth | 23 (77) | + | + |
Macroglossia | 12 (33) | - | - |
Natal teeth | 1 (3) | - | - |
Thick lower lip | 5 (16) | - | + |
Pointed chin | 5 (16) | - | + |
Malformed ears | 12 (33) | - | + |
Brachydactyly | 5 (16) | - | - |
Simian crease | 10 (30) | - | - |
Abnormal male genitals | 10 (33) | - | |
Cardiac anomaly | 15 (50) | + | - |
Anal atresia | 2 (7) | - | - |
Alopecia | 3 (10) | - | - |
Depigmentation | 1 (3) | - | - |
Renal cysts | 2 (7) | - | - |
Hydronephrosis | 2 (7) | - | - |
Behavioral problems | 4 (9) | - | + |
Sleep disturbances | 3 (10) | - | - |
Hearing loss | 6 (20) | + | + |
Hypotonia | 15 (50) | + | + |
Seizures | 10 (30) | + | + |