Bohring-opitz syndrome - A case of a rare genetic disorder
The Medical Journal of Malaysia
;
: 248-249, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-631021
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
The Medical Journal of Malaysia
Ano de publicação:
2017
Tipo de documento:
Artigo
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