Genetic Screening / Counselling

Bruck syndrome: a rare cause of reduced fetal movements
Sabnam Parvin, Arkadeep Dhali, Dijendra Nath Biswas, Sukanta Ray

BMJ Case Reports CP Dec 2021, 14 (12) e246786; DOI: 10.1136/bcr-2021-246786
Pembrolizumab as adjuvant therapy in a patient with Lynch syndrome with synchronous mixed clear cell carcinoma of ovarian origin and endometroid endometrial carcinoma
Kathleen Batty, Minmin Li, Sally Baron-Hay

BMJ Case Reports CP Nov 2021, 14 (11) e245497; DOI: 10.1136/bcr-2021-245497
Identification of novel missense mutation in a patient with an asymptomatic para-aortic paraganglioma
Salah Daghlas, Rajani Gundluru, Ayman Nada, Uzma Khan

BMJ Case Reports CP Oct 2021, 14 (10) e245427; DOI: 10.1136/bcr-2021-245427
Galactosaemia occurring in association with primary ovarian insufficiency, Addison’s disease and chronic myeloid leukaemia
Brandon Khoury, Mohamed KM Shakir, Thanh Duc Hoang

BMJ Case Reports CP Aug 2021, 14 (8) e244788; DOI: 10.1136/bcr-2021-244788
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
Rare variant of genetically confirmed tuberous sclerosis complex presenting with bilateral renal angiomyolipoma in Wünderlich syndrome
Ramon Jr Bagaporo Larrazabal, Harold Henrison Chang Chiu, Dennis L Sacdalan

BMJ Case Reports CP Aug 2021, 14 (8) e243380; DOI: 10.1136/bcr-2021-243380
Papillorenal syndrome: a systemic diagnosis not to be missed on fundoscopy
Benjamin Ng, Samantha R De Silva, Mandeep S Bindra

BMJ Case Reports CP Jul 2021, 14 (7) e241708; DOI: 10.1136/bcr-2021-241708
A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy
Sandra Ganchinho Lucas, Inês Vieira Santos, Filipe Jorge Pencas Alfaiate, Ireneia Lino

BMJ Case Reports CP Jul 2021, 14 (7) e242341; DOI: 10.1136/bcr-2021-242341
Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia
Arjun Verma, Nishant Banait, Pradeep Suryawanshi, Reema Garegrat

BMJ Case Reports CP Jul 2021, 14 (7) e240397; DOI: 10.1136/bcr-2020-240397
Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure
Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor

BMJ Case Reports CP Jun 2021, 14 (6) e241767; DOI: 10.1136/bcr-2021-241767

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Genetic Screening / Counselling

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