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  1. Bohring-opitz syndrome - A case of a rare genetic disorder
    Visayaragawan N, Selvarajah N, Apparau H, Kamaru Ambu V
    Med J Malaysia, 2017 08;72(4):248-249.
    PMID: 28889139 MyJurnal
    The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early. She succumbed to a Respiratory- Syncitial-Virus and Pseudomonas pneumonia complicated with sepsis at the age of two years and 11 months.
    Matched MeSH terms: Craniosynostoses/complications
  2. An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children
    Goh LC, Azman A, Siti HBK, Khoo WV, Muthukumarasamy PA, Thong MK, et al.
    Int J Pediatr Otorhinolaryngol, 2018 Jun;109:50-53.
    PMID: 29728184 DOI: 10.1016/j.ijporl.2018.03.010
    OBJECTIVE: To study the audiological outcome and early screening of pre-school going children with craniosynostosis under follow-up at the University of Malaya Medical Center(UMMC), Kuala Lumpur, Malaysia over a 10 year period.

    METHODS: A retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination. The main aim of this study was to evaluate the type and severity of hearing loss when compared between syndromic and non-sydromic craniosynostosis, and other associated contributory factors.

    RESULTS: A total of 31 patients with 62 ears consisting of 14 male patients and 17 female patients were evaluated. Twenty two patients (71%) were syndromic and 9 (29%) were non-syndromic craniosynostosis. Amongst the syndromic craniosynostosis, 9 (41%) had Apert syndrome, 7 (32%) had Crouzon syndrome, 5 (23%) had Pfieffer syndrome and 1 (4%) had Shaethre Chotzen syndrome. Patients with syndromic craniosynostosis were more likely to present with all types and severity of hearing loss, including severe to profound sensorineural hearing loss while children with non-syndromic craniosynostosis were likely to present with normal hearing (p 

    Matched MeSH terms: Craniosynostoses/complications*
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