Developmental Malformations
Cerebro-oculo-facio-skeletal syndrome
Nov. 22, 2024
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Mucolipidosis II alpha/beta in an 18-month old boy
(A) Abnormal facial features (ie, thick arched eyebrows, flat nose, swollen eyelids, exophthalmos, epicanthus, low-set ears, and short neck). (B) Gingival hyperplasia. (C) Anteroposterior chest x-ray: small chest shape, short floating ribs, and irregular bilateral proximal humerus. (D) Pelvis anteroposterior x-ray: sharp and deep bilateral sciatic incisions; small, shallow bilateral acetabula. (E) Brain MRI: small frontal lobes, wide extracerebral space, and less white matter. (F) Brain MRI: small frontal and temporal lobes, wide extracerebral space, and thin corpus callosum. (Source: Mao SJ, Zu YM, Dai YL, Zou CC. Case report: mucolipidosis II and III alpha/beta caused by pathogenic variants in the GNPTAB gene [mucolipidosis]. Front Pediatr 2022;10:852701. Creative Commons Attribution License [CC BY], creativecommons.org/licenses/by/4.0.)