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CASE REPORT
Year : 2019  |  Volume : 20  |  Issue : 3  |  Page : 255-257

Conradi–Hunermann syndrome: A rare case of chondrodysplasia punctata


Department of Pediatrics, Neonatology Unit, Government Medical College, Nagpur, Maharashtra, India

Correspondence Address:
Dr. Rajkumar Motiram Meshram
Department of Pediatrics, Neonatology Unit, Government Medical College, Nagpur, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_148_18

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Conradi–Hunermann syndrome is a common form of chondrodysplasia punctata, inherited as X-linked dominant disorder of cholesterol metabolism due to mutation of emopamil-binding protein gene resulting in a spectrum of skeletal, cutaneous, and ocular abnormalities. One-day-old premature, cesarean-delivered female neonate admitted with xerotic, featherlike yellow-to-white hyperkeratotic scale all over the body with craniofacial defect, coarse hair, patches of cicatricial alopecia, and absent eyebrows. Baby had rhizomelic shortening of proximal limb, clinodactyly, club foot, talipes equinovarus, and bilateral congenital cataract. Radiological skeletal survey revealed punctate stippled calcification involving left femoral head epiphysis, bilateral tarsal bones, vertebral bodies of multiple thoracolumbar vertebrae, and sternum. Serum level of 8-dehydrocholesterol was elevated. Diagnosis of rare disease can be made on clinical suspicion and radiological survey in resource-limited setting.


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