Skip to main content

Advertisement

Table 2 Comparison of the clinical features of our patients with those reported by Sebold et al., 2010

From: Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

Patient 1 2 3 4 5 6 7 8 9 % Sebold et al., 2010
Clinical findings
Sex M F F M F M M F F   
FD
 triangular face + + + + + + + + + 100% *
 horizontal palpebral fissure + + + + + + + + 89% *
 Synophris + + 22% *
 Strabismus + + + 33% 45%
 epicanthus + + 22% *
 low-set ears + + + + + + + + + 100% 32%
 anteverted nares + + + + + 55% *
 Depressed nasal Bridge + + + + + + + + + 100% *
 Smooth philtrum + + + + + + + + + 100% 87%
 small mouth + + + + + + + + 89% 17/31
 thin upper lip + + + + + + + + + 100% 35%
Developmental delay/ID + + + + + + + + + 100% 100%
Growth retardation + + + + + + 78% 30%
Microcephaly + + + + + + + + 89% 53%
Cardiac defect + + + NP 37% 24%
Abnormal muscle tone + + 22% 73%
Seizures + 11% 21%
Stereotyping + + 22% 25%
Kidney defect + 11% 6,45%
Single palmar crease + + 22% *
Hypospadias + 11% 4%
Ectopic testis + + 22% *
Hearing loss 0% 12%
Feet anomalies + + 22% 23%
Corpus callosum hypoplasia * + * 11% 25%
  1. +: present, −: not present, F female, M Male, *: data not collected or not mentioned, NP Not performed, FD Facial Dysmorphia, ID Intellectual disability