Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report

Table 1 Comparisons of phenotypic characteristics between this Iranian child case and some reported cases of tetrasomy 18p

Clinical findings	Other reported cases	Our case	Total
Developmental delay/intellectual disability	117 of 117	Yes	(118 of 118) 100%
Triangular face	11 of 12	Yes	(12 of 13) 92%
Smooth philtrum	36 of 40	Yes	(37 of 41) 90%
Feeding difficulties	61 of 108	Yes	(62 of 118) 53%
Hypotonia	56 of 117	Yes	(57 of 118) 48%
Epicanthus	5 of 12	Yes	(6 of 13) 46%
Strabismus	44 of 99	Yes	(45 of 100) 45%
History of constipation	35 of 108	Yes	(36 of 109) 33%
Growth retardation	36 of 117	Yes	(37 of 118) 31%
Foot anomalies	21 of 93	Yes	(22 of 94) 23%
Small mouth	25 of 40	No	(25 of 41) 61%
Low-set ears	25 of 41	No	(25 of 42) 60%
Microcephaly	60 of 117	No	(60 of 118) 51%
Brain MRI variants	13 of 27	No	(13 of 28) 46%
Cryptorchidism	19 of 47	No	(19 of 48) 40%
Scoliosis/kyphosis	33 of 86	No	(33 of 87) 38%
Recurrent otitis media	38 of 108	No	(38 of 109) 35%
Jaundice	31 of 108	No	(31 of 109) 28%
Cardiac defects	26 of 107	No	(26 of 108) 25%
Seizures	24 of 117	No	(24 of 118) 20%
Respiratory distress	16 of 107	No	(16 of 108) 15%
History of gastroesophageal reflux	15 of 107	No	(15 of 108) 14%
Hearing loss	11 of 103	No	(11 of 104) 11%
Kidney defect	9 of 98	No	(9 of 99) 9%
Hernias	9 of 107	No	(9 of 108) 9%
Hypospadias	3 of 55	No	(3 of 56) 5%
Pyloric stenosis	4 of 107	No	(4 of 108) 4%
Growth hormone deficiency	4 of 96	No	(4 of 97) 4%
IgA deficiency	4 of 107	No	(4 of 108) 4%
Hypoglycemia	1 of 107	No	(1 of 108) 1%
Bradycardia	1 of 107	No	(1 of 108) 1%

Data collected from previous reports and reviews[5,6,8,11,14,20].