Syndromic and clinical findings
Syndrome and patient ID no. . | Age at transplantation, mos. . | Syndromic association . | Hypocalcemia . | Cardiac defect . | Other first to sixth pharyngeal pouch/arch abnormalities* . | Other clinical findings at presentation . |
|---|---|---|---|---|---|---|
| Typical complete | ||||||
| DiGeorge syndrome | ||||||
| DIG103 | 8.5 | CHARGE, 22q11 normal | No | PDA, right aortic arch, complete vascular ring, patent foramen ovale | Choanal atresia, hearing loss, poor swallow | Dermatitis, hiatal hernia on day 1 of life, hypogonadism, Dandy-Walker, mega cisternamagna, rotavirus, bilateral colobomas |
| DIG105 | 12.7 | Mother with gestational diabetes, 22q11 normal | Yes | VSD, small PDA, PFO | GER | 3 weeks of ventilation after birth, spina bifida occulta, seizure from multiple infections |
| Atypical complete | ||||||
| DiGeorge syndrome | ||||||
| DIG102 | 8.9 | 22q11 hemizygosity | Yes† | No | GER | Rash, FTT, PCP, Candida albicans in draining ear, lymphadenopathy |
| DIG104 | 4.0 | Mother with type I diabetes, 22q11 normal | Yes | PFO | Abnormal BAER on left, GER | Polyhydraminos, vertebral anomalies at T7 and T8, rash, lymphadenopathy, FTT, RSV on admission, enterovirus on admission |
| DIG106 | 10.8 | VCFS, 22q11 normal | Yes | VSD, large PDA, hypoplastic aortic arch with coarctation and subaortic stenosis | Cleft soft palate and notch of upper lip, malformed right ear, GER, right choanal atresia | Rash, FTT, severe developmental delay, ischemic brain injury, tracheostomy, infections, rash, lympadenopathy (biopsied) |
| DIG107 | 13.0 | CHARGE, 22q11 normal | Yes | Small ASD | Swallowing dysfunction, GER, left choanal atresia, abnormal BAER on left, seventh nerve palsy | Intermittent rash, lymphadenopathy (biopsied), multiple aspiration pneumonias, sepsis with Bacillus cereus, stools positive for Clostridium dificile toxin and rotavirus, PCP |
Syndrome and patient ID no. . | Age at transplantation, mos. . | Syndromic association . | Hypocalcemia . | Cardiac defect . | Other first to sixth pharyngeal pouch/arch abnormalities* . | Other clinical findings at presentation . |
|---|---|---|---|---|---|---|
| Typical complete | ||||||
| DiGeorge syndrome | ||||||
| DIG103 | 8.5 | CHARGE, 22q11 normal | No | PDA, right aortic arch, complete vascular ring, patent foramen ovale | Choanal atresia, hearing loss, poor swallow | Dermatitis, hiatal hernia on day 1 of life, hypogonadism, Dandy-Walker, mega cisternamagna, rotavirus, bilateral colobomas |
| DIG105 | 12.7 | Mother with gestational diabetes, 22q11 normal | Yes | VSD, small PDA, PFO | GER | 3 weeks of ventilation after birth, spina bifida occulta, seizure from multiple infections |
| Atypical complete | ||||||
| DiGeorge syndrome | ||||||
| DIG102 | 8.9 | 22q11 hemizygosity | Yes† | No | GER | Rash, FTT, PCP, Candida albicans in draining ear, lymphadenopathy |
| DIG104 | 4.0 | Mother with type I diabetes, 22q11 normal | Yes | PFO | Abnormal BAER on left, GER | Polyhydraminos, vertebral anomalies at T7 and T8, rash, lymphadenopathy, FTT, RSV on admission, enterovirus on admission |
| DIG106 | 10.8 | VCFS, 22q11 normal | Yes | VSD, large PDA, hypoplastic aortic arch with coarctation and subaortic stenosis | Cleft soft palate and notch of upper lip, malformed right ear, GER, right choanal atresia | Rash, FTT, severe developmental delay, ischemic brain injury, tracheostomy, infections, rash, lympadenopathy (biopsied) |
| DIG107 | 13.0 | CHARGE, 22q11 normal | Yes | Small ASD | Swallowing dysfunction, GER, left choanal atresia, abnormal BAER on left, seventh nerve palsy | Intermittent rash, lymphadenopathy (biopsied), multiple aspiration pneumonias, sepsis with Bacillus cereus, stools positive for Clostridium dificile toxin and rotavirus, PCP |
ASD indicates atrial septal defect; BAER, brainstem auditory evoked potentials; FTT, failure to thrive; GER, gastroesophageal reflux; PCP, Pneumocystis carnii pneumonia; PDA, patent ductus arteriosus; PFO, patent foramen ovale; RSV, respiratory syncytial virus; VSD, ventricular septal defect; VCFS, velocardiofacial syndrome.
The following are the postulated developmental sources of the anomalies1 : cleft soft palate and notch of upper lip, first arch; choanal atresia, first arch; ear anomalies, first and second arches; seventh nerve palsy, second arch; poor swallow (ninth cranial nerve), third arch; GER (related to ninth cranial nerve), third arch.
Hypocalcemia became clinically significant after thymus transplantation.