Developmental paediatrocs

Lower limb alignment correction can improve knee stability in congenital absence of anterior cruciate ligament
Poppy MacInnes, Thomas Lorchan Lewis, Michail Kokkinakis

BMJ Case Reports CP Nov 2022, 15 (11) e245686; DOI: 10.1136/bcr-2021-245686
Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay
Daniel O'Reilly, Sharon Dempsey, Michael Joseph O'Grady, Taha Ibrahim Yousif

BMJ Case Reports CP Nov 2022, 15 (11) e251871; DOI: 10.1136/bcr-2022-251871
Mandibular talon cusp: a rare dental anomaly
Mebin George Mathew

BMJ Case Reports CP Nov 2022, 15 (11) e252227; DOI: 10.1136/bcr-2022-252227
Young adolescent with trisomy 13
Britt C E Kramer, Najma S Abdullahi, Loekie C ten Have, Annette P M van den Elzen

BMJ Case Reports CP Sep 2022, 15 (9) e246514; DOI: 10.1136/bcr-2021-246514
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome
Nattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, Suma P Shankar, Randi Hagerman

BMJ Case Reports CP Jul 2022, 15 (7) e247901; DOI: 10.1136/bcr-2021-247901
Beyond what clinicians see: missed diagnosis and misdiagnosis of a woman with autism spectrum disorder
Joana Isaac, Daniela Jeremias, Carolina Rocha Almeida, Rui Albuquerque

BMJ Case Reports CP Apr 2022, 15 (4) e246320; DOI: 10.1136/bcr-2021-246320
Marie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the key
Sushmita Koduru Laxmi, Satya Ranjan Misra, Saurav Panda, Neeta Mohanty

BMJ 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 lipofuscinosis
Debaleena Mukherjee, Dwaipayan Bhattacharyya, Alak Pandit, Souvik Dubey

BMJ 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 neonate
Amruta Varma, Gaurav Vedprakash Mishra, Rajasbala Dhande, Bhushita B Lakhkar

BMJ 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 gene
Aishwarya Ganesh, Samyuktha Sivakumar, RanjithKumar Manokaran, Udayakumar Narasimhan

BMJ Case Reports CP Aug 2021, 14 (8) e244152; DOI: 10.1136/bcr-2021-244152

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CLINICAL
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Developmental paediatrocs

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