Table 1 Comparisons of clinical manifestations in our proband and previously reported patients with a similar phenotype or deletion region in Chr17q12
From: A rare combination of MODY5 and duodenal atresia in a patient: a case report
Our proband | Roehlen et al. (2018) [15] | Iwasaki et al. (2016) [9] | Goumy et al. (2015) [14] | Quintero-Rivera et al. (2014) [7] | Hinkes et al. (2012) [12] | George et al. (2012) [11] | Dixit et al. (2012) [10] | Moreno-De-Luca et al. (2010) [13] | |
|---|---|---|---|---|---|---|---|---|---|
Diabetes mellitus | + | 2/2 | + | NR | – | + | 0/2 | 0/3 | 1/9 |
Renal cysts | + | 2/2 | + | + | + | + | 1/2 | 3/3 | + |
Pancreas abnormalities | – | 2/2 | + | NR | – | NR | NR | 0/3 | NR |
Liver abnormalities | + | 2/2 | + | + | + | NR | NR | 1/3 | NR |
Facial dysmorphism | – | 1/2 | NR | + | + | NR | NR | 2/3 | 9/9 |
Joint laxity | – | NR | NR | NR | + | + | NR | 0/3 | NR |
Short stature or failure to thrive | – | NR | NR | – | – | NR | 0/2 | 1/3 | 1/9 |
Autism spectrum disorder | – | NR | NR | – | NR | – | 0/2 | 1/3 | 6/9 |
Intellectual impairment | – | 2/2 | NR | – | NR | – | 2/2 | 3/3 | 8/9 |
Aggression | – | NR | NR | NR | – | NR | NR | 2/9 | |
Anxiety/disruptive behavior | – | NR | NR | – | NR | – | 1/2 | NR | 5/9 |
Hyperactivity | – | NR | NR | NR | – | – | 1/2 | NR | 2/9 |
Gastrointestinal abnormalities | DA | NR | NR | GERD | DA | NR | NR | NR | GERD (2/9), FC (2/9) |