Table 1 Summary of the features described in cohorts of NOTCH1-related Adams–Oliver syndrome and in our cohort.
AOS feature | Previous citing literature | Total in literature | Total in cohort | |
|---|---|---|---|---|
Stittrich et al. [23] | Southgate et al. [17] | |||
TTLD | 6 | 13 | 19 | 0 |
Cutis aplasia | 5 | 13 | 18 | 5 |
Cardiac malformation | 3 | 8 | 11 | 27 |
Bony skull defect | 7 | 7 | 1 | |
Cutis marmorata | 4 | 2 | 6 | 3 |
Hypoplastic/aplastic nails | 5 | 1 | 6 | 1 |
Brachydactyly | 3 | 1 | 4 | 3 |
Toe hypoplasia | 2 | 1 | 3 | 0 |
Syndactyly | 2 | 1 | 3 | 0 |
Intracranial vascular lesions | 3 | 3 | 4 | |
Portal hypertension | 3 | 3 | 0 | |
Long palpebral fissures | 2 | 2 | 0 | |
Down-slanting palpebral fissures | 1 | 1 | 1 | |
Hypertelorism | 1 | 1 | 1 | |
White vesicles at fingertips | 1 | 1 | 0 | |
Portal vein hypoplasia | 1 | 1 | 1 | |
Tortuous scalp vessels | 1 | 1 | 0 | |
Hemangioma | 1 | 1 | 0 | |
Pulmonary hypertension | 1 | 1 | 2 | |
Hernia | 1 | 1 | 1 | |
Cryptorchidism | 1 | 1 | 0 | |
Lymphopenia | 1 | 1 | 0 | |
Myopathy | 1 | 1 | 0 | |
Epilepsy | 1 | 1 | 3 | |
Intellectual disability | 1 | 1 | 0 | |
Learning disability | 1 | 1 | 3 | |
Autism | 1 | 1 | 0 | |
Spastic diplegia | 1 | 1 | 0 | |
