Genetics

Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10
David Vaughan, Adrinda Affendi, Patrick Sheahan, Brian Sweeney

BMJ Case Reports CP Dec 2021, 14 (12) e245484; DOI: 10.1136/bcr-2021-245484
Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease
Ryan Curtis Roopnarinesingh, Noel Edward Donlon, John V Reynolds

BMJ Case Reports CP Dec 2021, 14 (12) e244240; DOI: 10.1136/bcr-2021-244240
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
Prolidase deficiency in an infant with an incidental finding of methaemoglobinaemia
Chern Yan Tan, Easwari Kothandaraman, Arunabha Ghosh

BMJ Case Reports CP Nov 2021, 14 (11) e244155; DOI: 10.1136/bcr-2021-244155
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
A very unusual cause of severe right upper quadrant pain: splenic infarct in a patient with heterotaxy syndrome
Hafez Mohammad Ammar Abdullah, Mamoon Ahmed, Salman Khan, Uzma Ikhtiar Khan

BMJ Case Reports CP Nov 2021, 14 (11) e246541; DOI: 10.1136/bcr-2021-246541
Critical COVID-19 in a pregnant patient who presented in starvation ketoacidosis with a background history of acrorenal syndrome
Aoife Brady, Ahmed Aglan

BMJ Case Reports CP Nov 2021, 14 (11) e244117; DOI: 10.1136/bcr-2021-244117
Pigmentary retinopathy masked by asymmetric acquired phenomena
Kit Green Sanderson, Kirk A J Stephenson, Adrian Dockery, David J Keegan

BMJ Case Reports CP Nov 2021, 14 (11) e246982; DOI: 10.1136/bcr-2021-246982
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
Too young to break? A rare case of premenopausal osteoporosis
Iqra Patoli, Mian Zeeshan Munir, Sameerah Rehmani

BMJ Case Reports CP Oct 2021, 14 (10) e245241; DOI: 10.1136/bcr-2021-245241

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Genetics

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