Table 1 Tabulation of clinical manifestations of individual family members
From: Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
| Â | Case | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Â | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
III-3 | II-5 | III-4 | I-1 | II-4 | II-3 | III-2 | IV-1 | II-2 | III-1 | |
Pupillary abnormalities | + | + | + | + | + | + | ? | ? | ? | ? |
Obstructive sleep apnea | - | + | - | + | + | + | - | - | ? | ? |
Neonatal apneas/desaturations | + | ? | + | ? | ? | ? | ? | + | ? | ? |
Low resting O2 saturation levels | - | + | - | - | + | - | - | + | ? | ? |
Pulmonary hypertension | - | - | - | - | + | - | - | - | ? | ? |
Cardiac arrest | - | - | - | + | - | - | - | - | ? | ? |
Hirschsprung disease | + | - | - | - | - | - | - | + | ? | ?+ |
Constipation | - | - | + | + | - | - | + | - | ? | ? |
Episodic diaphoresis | - | + | - | - | - | + | - | - | ? | ? |
Neural crest tumors | - | - | - | - | - | - | - | - | ? | ? |