Nonsyndromic Phocomelia: A Case Series
نویسندگان
چکیده
منابع مشابه
Hereditary Nonsyndromic Gingival Fibromatosis: Report of Family Case Series
Hereditary gingival fibromatosis (HGF) is a rare, benign disorder with slowly progressive enlargement of maxillary and mandibular gingiva. Herewith, we report the first case series of HGF presenting among mother and all of her 3 children. Their complaints included unaesthetic appearance due to gingival growth, malocclusion, and difficulty in mastication. Conventional gingivectomy with oral hygi...
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A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.
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While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proxim...
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Objective Phocomelia is a rare congenital anomaly seen in 4 million births. Many factors play a role in the etiology of phocomelia such as environmental-genetic factors, teratogen exposure and amniotic band syndrome. Thalidomide, alcohol, cyclophosphamide and retinoic acid have also been implicated in the pathogenesis. Phocomelia may be isolated or accompanied by syndromes. We present a case of...
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ژورنال
عنوان ژورنال: Translational Biomedicine
سال: 2016
ISSN: 2172-0479
DOI: 10.21767/2172-0479.100049