Phenotype #0000254810
| Individual ID |
00359555 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
born 37+2w; pregnancy complicated by polyhydramnios; 7d-recurrent bouts of intestinal disease marked by diarrhoea alternating with reduced intestinal motility; dysmorphic features, arched palate, low set ears, broad philtrum; developed intestinal and hepatic portal venous gas interpreted as atypical NEC corresponding to Bell stage IIB and treated with antibiotics and parenteral nutrition, three similar episodes observed, general state was not severely affected during these bouts of illness; developed dystrophy; bodyweight, length and head circumference all below third age percentile; 5m-haemorrhagic diarrhoea, projectile vomiting; ultrasound distended intestinal loops, grossly distended abdomen; condition worsened within hours, cardiac arrest, died following a period of prolonged, ultimately unsuccessful cardiopulmonary resuscitation |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
00y05m (5 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2021-03-25 10:33:52 +01:00 (CET) |
| Date last edited |
N/A |
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