Table 1 Clinical findings of our patient compared with previously reported KS patients and defects in EHMT1
From: Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Overlapping features | Our patient | Previously reported patients with KS andEHMT1defect (%) |
|---|---|---|
Psychomotoric retardation/ ID | + | 100% |
Childhood hypotonia | + | 100% |
Behavioural problems | + (autistic features) | 75% |
Facial dysmorphisms: | ||
Midface hypoplasia | + | 80% |
Synophris | + | 60% |
Dysplastic/posterior rotated ears | + | 50% |
Short/small nose | + | 45% |
Brachycephaly | + | 40% |
Protruding tongue/macroglossia | + | 40% |
Hypertelorism | + | 30% |
Anteverted nostrils | + | 25% |
Tented/cupid-bowed upper lip | + | 25% |
Thick/everted lower lip | + | 25% |
Pointed chin | + | 25% |
Different features | ||
Overweight | - | 45% |
Facial dysmorphisms: | ||
Arched eyebrows | - | 30% |
Pointed chin | - | 25% |
Prominent forehead | + | n. r. |
Neurologic defects: | ||
Structural CNS anomalies | - | n. r. |
Seizures | - | 25% |
Renal anomalies | - | 15% |
Sensorineural hearing loss | - | 15% |
Deeply creased soles of the feet | + | n. r. |
Hairy back | + | n. r. |