Coarse facial features

Challenging Cases in Dermatology Volume 2 pp Cite as. A boy presented with coarse facial features, blindness, hernia, undescended testis, and delayed milestones. He had radiographic findings of dysostosis, and urine test showed high glycosaminoglycan level. The combination of clinical, radiological, and lab findings represented a rare inherited lysosomal storage disorder. Skip to main content. This service is more advanced with JavaScript available.
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Coarse facial features

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Coarse Facies and Umbilical Hernia | SpringerLink

In patients with moderate to severe MPS I, coarse facial features develop slowly in the first year and by two years of age are usually fairly obvious Image 1. This coarseness, which leads to the loss of fine detail in the infant's facial features, is caused by storage of glycosaminoglycans in the orofacial region, as well as by underlying facial bone dysostosis. Thickened nostrils, lips, and ear lobules and enlargement of the tongue are all characteristics that become progressively more evident. Facial and body hypertrichosis is often seen by 24 months of age, at which time the facial and scalp hair may be coarse, straight and thatch-like. Children with severe MPS I generally have large heads, in part a consequence of the thickened calvaria that also produces a characteristic cranial appearance. The physical appearance of mildly affected individuals with attenuated MPS I is quite variable Image 2.
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Coarse Facies and Umbilical Hernia

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Term Hierarchy. Phenotypic abnormality Abnormality of head or neck Abnormality of the head Abnormality of the face Abnormal facial shape Coarse facial features Pugilistic facies. Conditions with this feature. A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma BCC , multiple jaw keratocysts and skeletal abnormalities.
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