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CASE REPORT
Year : 2015  |  Volume : 2  |  Issue : 4  |  Page : 356-359

Aarskog–Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature


1 Department of Endocrinology, Elite Endocrinology Clinic, Chandanagar, Hyderabad, Telangana, India
2 Department of Biochemistry, CAIMS, Bommakal Village, Karimnagar, Hyderabad, Telangana, India
3 Department of Endocrinology, Osmania General Hospital, Hyderabad, Telangana, India

Correspondence Address:
Babulreddy Hanmayyagari
Flat No. 507, Emerald Block, Madinaguda, Hyderabad, Telangana
India
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Source of Support: Nil., Conflict of Interest: There are no conflicts of interest.


DOI: 10.4103/2348-3334.165745

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Aarskog–Scott syndrome is an X-linked inherited disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies. Although ophthalmic, dental, and cardiac defects are rarely seen. The present case report is of a 10-year-old boy with Aarskog syndrome who born with third degree of consanguineous marriage, delivered by caesarean section. The boy had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly, single palmar crease, shawl scrotum. The patient was on growth hormone (GH) therapy and responding well. Along with GH therapy, the patient was on rehabilitation program and his family was undergoing genetic counseling.


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