Phenotype #0000325732
| Individual ID |
00435545 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDCFSA |
| Phenotype details |
see paper; ..., induction of labor a37/40w for reduced fetal movements, born in good condition (Apgar scores 7 and 8); 1d-deteriorated, severe pulmonary HTn (see cardiac); birth 37w; language/speech delay, no words as yet, speech therapy starting on signing; motor delay, 17m-sit, not walking; sleep disturbances, poor sleep, frequent waking for prolonged periods of time; 17m-inconsistently responds to own name (normal audiology), sensory seeking, mostly happy baby; seizures/epilepsy newborn period after neurological insult from hypoperfusion, has been off AEDs for >1y and remains seizure free; hypotonia; no dystonia; no spasticity; unusual posturing of arms, although not dystonic as per neurologist assessment; MRI brain no structural anomalies; 5d-MRI showed multiple punctate bilateral frontoparietal white matter T1 hyperintensities compatible with microhemorrhages, bilateral posterior fossa and parieto-occipital subdural haematomas with subgaleal haematomas, possibly birth-related; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; 17m-will not weight bare through legs; tall forehead, deep set elanguage/speech delay, medially spares eyebrows, short nose, full cheeks, down turned corners of the mouth .; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital cardiac disease, disconnected right pulmonary artery (supplied by a PDA), surgically reconnected (implantation of right pulmonary artery, ligation of PDA), pulmonary aftery restenosed, 4m-balloon dilatation, restenosed again, 8m-stent angioplasty, restenosed again- arterial conduit graft is planned.; 2w-CT-angiogram abnormal abdominal vasculature including marked narrowing and some irregularity of the distal abdominal aorta, iliac & common femoral vessels with short segments of high-grade or complete stenosis of both common femoral arteries. Narrowing of the major abdominal aorta visceral branches, particularly renal arteries and possibly to a lesser extent the hepatic artery and coeliac axis was noted.; neonatal feeding difficulties; regular vomiting as an infant; constipation; no skin hyperlaxity; kidneys <5th centile in size for age; telangiectatisia on face and chest; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
1y6m (1 year, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-08-03 13:47:25 +02:00 (CEST) |
| Date last edited |
N/A |
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