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CASE REPORT
Year : 2021  |  Volume : 22  |  Issue : 2  |  Page : 151-153

Ichthyosiform lesion at birth demystifying familial short stature


Department of Neonatology, JIPMER, Puducherry, India

Correspondence Address:
Chanchal Kumar
Department of Neonatology, JIPMER, Dhanvantari Nagar, Puducherry - 605 006
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_129_20

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Conradi-Hünermann syndrome is a rare genetic condition characterized by skeletal malformations, skin abnormalities, cataracts and short stature. We report a term female infant presenting with a diffuse ichthyosiform erythroderma at birth. Physical examination also showed sparse lusterless hair with cicatricial alopecia, dystrophic nails, facial dysmorphism, and flexion contracture of fingers. Radiological examination revealed a shortening of the right femur and humerus, vertebral defects, scoliosis, and epiphyseal stippling of long bones on the right side. The infant's sister and mother had short stature and bony joint swellings. A clinical diagnosis of X-linked Conradi–Hünermann syndrome was considered based on clinical suspicion and radiological survey. Dermatologists and pediatricians should consider this diagnosis in children with suggestive features.


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