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Developmental paediatrocs
- Beyond what clinicians see: missed diagnosis and misdiagnosis of a woman with autism spectrum disorderJoana Isaac, Daniela Jeremias, Carolina Rocha Almeida, Rui AlbuquerqueBMJ Case Reports CP Apr 2022, 15 (4) e246320; DOI: 10.1136/bcr-2021-246320
- Marie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the keySushmita Koduru Laxmi, Satya Ranjan Misra, Saurav Panda, Neeta MohantyBMJ Case Reports CP Feb 2022, 15 (2) e248673; DOI: 10.1136/bcr-2021-248673
- Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosisDebaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, Souvik DubeyBMJ Case Reports CP Feb 2022, 15 (2) e247790; DOI: 10.1136/bcr-2021-247790
- Varied presentation of lobar holoprosencephaly as a cause of macrocephaly in a neonateAmruta Varma, Gaurav Vedprakash Mishra, Rajasbala Dhande, Bhushita B LakhkarBMJ Case Reports CP Jan 2022, 15 (1) e248024; DOI: 10.1136/bcr-2021-248024
- Atypical presentation of rapid-onset dystonia–parkinsonism in a toddler with a novel mutation in the ATP1A3 geneAishwarya Ganesh, Samyuktha Sivakumar, RanjithKumar Manokaran, Udayakumar NarasimhanBMJ Case Reports CP Aug 2021, 14 (8) e244152; DOI: 10.1136/bcr-2021-244152
- Scurvy mimicking as systemic lupus erythematosusNarueporn Likhitweerawong, Nonglak Boonchooduang, Wipawee Morakote, Orawan LouthrenooBMJ Case Reports CP Jun 2021, 14 (6) e242958; DOI: 10.1136/bcr-2021-242958
- Rare association of Klippel-Feil syndrome with situs inversus totalis and review of the genetic backgroundHusain Abdulameer Abdali, Joseph Rivendra Duddu, Mohamed Jawad Mubarak, Almughirah Salahaldin MohamedBMJ Case Reports CP May 2021, 14 (5) e241906; DOI: 10.1136/bcr-2021-241906
- Development of central precocious puberty following cannabinoid use for paediatric epilepsy: causal or coincidence?Aditya Krishnan, Juliana Chizo Agwu, Chetana Kallappa, Rajesh PandeyBMJ Case Reports CP Apr 2021, 14 (4) e239678; DOI: 10.1136/bcr-2020-239678
- Idiopathic hypogonadotropic hypogonadism: a rare cause of primary amenorrhoea in adolescence—a review and update on diagnosis, management and advances in genetic understanding.Grace Cham, Brooke O'Brien, Rebecca MN KimbleBMJ Case Reports CP Apr 2021, 14 (4) e239495; DOI: 10.1136/bcr-2020-239495
- Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD)Somesh Singh, Sarvesh Chandra Mishra, Amrin Israrahmed, Hira LalBMJ Case Reports CP Mar 2021, 14 (3) e242586; DOI: 10.1136/bcr-2021-242586
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