EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?

Contains fulltext : 52212.pdf (publisher's version ) (Closed access)We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb-mammary syndrome (LMS). Features common to both families were an ectodermal dysplasia principally affecting tooth, breast and nipple development, dacryostenosis and severe micturition difficulties. Additional findings included post-axial digital hypoplasia, cleft uvula, anal stenosis, hypoplasia of the perineal body and biopsy-proven interstitial cystitis. No individual had cleft lip. Split hand-split foot malformation (SHFM) occurred in one child-born after the molecular diagnosis was established. Unlike previous reports, the urinary symptoms were refractory to treatment with oral Fibrase and persisted into adulthood. Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation

Paediatric CT dose: a multicentre audit of subspecialty practice in Australia and New Zealand

Objectives To evaluate paediatric CT dosimetry in Australia and New Zealand and calculate size-specific dose estimates (SSDEs) for chest and abdominal examinations.Methods Eight hospitals provided data from 12 CT systems for 1462 CTs in children aged 0-15. Imaging data were recorded for eight examinations: head (trauma, shunt), temporal bone, paranasal sinuses, chest (mass) and chest HRCT (high-resolution CT), and abdomen/pelvis (mass/inflammation). Dose data for cranial examinations were categorised by age and SSDEs by lateral dimension. Diagnostic reference ranges (DRRs) were defined by the 25th and 75th percentiles. Centralised image quality assessment was not undertaken.Results DRRs for 201 abdominopelvic SSDEs were: 2.8-4.7, 3.6-11.5, 8.5-15.0, 7.6-15, and 10.6-16.2 for the 30 cm groups, respectively. For 147 chest examinations using these body width categories, SSDE DRRs were 2.0-4.4, 3.3-7.9, 4.0-9.4, 4.5-12, and 6.5-12. Kilovoltage peak (kVp), but not AEC or IR, was associated with SSDE (parameter estimate [standard error]: 0.12 (0.03); p < 0.0001).Conclusions Australian and New Zealand paediatric CT DRRs and abdominal SSDEs are comparable to international data. SSDEs for chest examinations are proposed. Dose variations could be reduced by adjusting kVp