Review of published reports of congenital abnormalities in patients with neonatal diabetes (ND)
| ND form/phenotypes | Genetic defect | References |
|---|---|---|
| nd=not determined. | ||
| *Macroglossia in 5/30 transient ND, association of macroglossia and umbilical hernia in 2/30 transient ND.16 | ||
| Transient | ||
| Macroglossia* | nd | Dacou Voutekakis et al18 |
| Temple et al16 | ||
| Macroglossia, umbilical hernia* | Paternal UPD(6) | Hermann et al22 |
| Temple et al16 | ||
| Macroglossia, coarse facial features | Paternal inv dup (6)(q22q23) | Arthur et al3 |
| Pancreatic β cell agenesis, methylmalonic acidaemia | Paternal UPD(6) | Abramovicz et al25 |
| Microcephaly | nd | Shield et al1 |
| Macroglossia, anaemia, umbilical hernia | Paternal dup(6) | Temple et al4 |
| Macroglossia, hypertelorism, club foot | Paternal UPD(6) | Christian et al21 |
| Macroglossia, umbilical hernia, bilateral inguinal hernia, asymmetrical growth retardation, large fontanelles, hypospadias | nd | Battin et al19 |
| Umbilical hernia, delayed development, minor facial anomalies including “carp mouth”, cardiomegaly | Dup(6)(q21q23) | Zneimer et al20 |
| Permanent | ||
| Pancreatic hypoplasia, congenital heart defect (transposition of the great vessels, ventricular septal defect, pulmonary stenosis, atrial septal defect), necrotic brain mass | nd | Yorifuji et al28 |
| Dorsal pancreas agenesis, interventricular septal defect | nd | Gurson et al26 |
| Type 1 diabetes, pancreas hypoplasia | nd | Carroll et al27 |
| Microcephaly | nd | Reus et al34 |
| Pancreatic exocrine insufficiency, congenital pancreatic agenesis | nd | Wright et al24 |
| Primary congenital hypothyroidism | nd | Al Jurayyan et al30 |
| Hypothyroidism, bilateral neurosensory deafness, myopia, dysmorphic features, congenital stridor, growth retardation | Mitochondrial diabetes eliminated | Muina et al31 |
| Pancreatic agenesis | IPF1 | Stoffers et al10 |
| Renal hepatic pancreatic dysplasia | nd | Attia et al32 |
| Cerebellar agenesis/hypoplasia | nd | Hoveyda et al33 |