Pradeep Immanuel, Gowrishankar Kalpana, Shanmugasundaram Lakshmi
Department of Pathology and Laboratory Medicine, 596687A.I.I.M.S Bibinagar, Hyderabad, India.
Department of Medical Genetics, 29981Kanchi Kamakoti Childs Trust Hospital, Chennai, India.
Pediatr Dev Pathol. 2022 May-Jun;25(3):327-329. doi: 10.1177/10935266211065316. Epub 2021 Dec 27.
Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.
致死性限制性皮病是一种与核纤层蛋白缺陷相关的遗传性皮肤病，可导致皮肤、肌肉骨骼和脂肪组织的结缔组织异常。我们报告了这样一例病例，该病例中参与核纤层蛋白合成的基因发生突变，导致胎儿运动不能或运动减少变形序列。在围产期早期识别出独特的临床和皮肤组织学特征，随后进行分子诊断，从而能够为受影响的家庭提供遗传咨询。
