Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?Valentina Gasco, Patrizia Matarazzo, Luisa De Sanctis, Ezio Ghigo
29 December 2022
Spontaneous subdiaphragmatic bar migration after pectus excavatum treatmentAlexander Hamming, Hendt Versteegh, J Marco Schnater
29 December 2022
Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndromeNalinikanta Panigrahy, Shweta Bakhru, Lokesh Lingappa, Dinesh Chirla
29 December 2022
Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndromeMokshal Porwal, Danyon Anderson, Abrahim Nagayoshi Razzak, Garrett Fitzgerald
26 December 2022
Do renal and cardiac malformations in the fetus signal carnitine palmitoyltransferase II deficiency? A rare lethal fatty acid oxidation defectYee Yin Tan, Wen Yan Nikki Fong, Charmaine Jiahui Chan, Suresh Chandran
19 December 2022
Diaphragmatic hernia: an infant in respiratory distressDermot Michael Wildes, Eoin McHugh, Danielle McLaughlin, Barry Scanlan
16 December 2022
Cranial subdural migrating to lumbar subdural space in a toddlerCatherine Wassef, Anmol Almast, Shehanaz Ellika
12 December 2022
Use of tissue samples in diagnosing diploid triploid mosaicismOisín Mahon, Áine Fox, Sally Ann Lynch, Katie Cunningham
8 December 2022
Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variantMichelle Robyn Schneeweiss, Breanne Dale, Resham Ejaz
7 December 2022
Anogenital condylomata acuminata in young children: not always result of sexual transmissionJoana Valente Dias, Sónia Gomes, Helga Afonso, Rita Teles
5 December 2022