Genetic screening / counselling

Mandibulofacial dysostosis with microcephaly: a syndrome to remember
Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos

BMJ Case Reports CP Aug 2019, 12 (8) e229831; DOI: 10.1136/bcr-2019-229831
Worsening of movement disorder following treatment with electroconvulsive therapy in a patient with Huntington’s disease
Hesitha Abeysundera, Allan Campbell, Shanthi Sarma

BMJ Case Reports CP Aug 2019, 12 (8) e230389; DOI: 10.1136/bcr-2019-230389
Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome
Shrinal Kotecha, Venkatesh Kairamkonda

BMJ Case Reports CP Jul 2019, 12 (7) e229668; DOI: 10.1136/bcr-2019-229668
Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor
Farnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D Roberts

BMJ Case Reports CP Jul 2019, 12 (7) e227986; DOI: 10.1136/bcr-2018-227986
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
Weiyi Mu, Laura Tochen, Caroline Bertsch, Harvey S Singer, Kristin W Barañano

BMJ Case Reports CP May 2019, 12 (5) e228782; DOI: 10.1136/bcr-2018-228782
Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham, Adel Sallam, Aiman Shawli

BMJ Case Reports CP May 2019, 12 (5) e229045; DOI: 10.1136/bcr-2018-229045

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Genetic screening / counselling