Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly.
A 6 year-old female showed growth hormone deficiency, situs inversus totalis, short stature, blue sclerae, facial dismorphism, brachydactyly, developmental delay and hypertrichosis. The described phenotype represents a new syndromic situs inversus with a characteristic phenotype. Here, we present the first patient with this association in the literature.
Kurtoglu
Selim
S
Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey. selimk@erciyes.edu.tr
Atabek
M Emre
ME
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D006983:Hypertrichosis / Q000150:complications*; D012857:Situs Inversus / Q000150:complications* / Q000473:pathology
D019382:Human Growth Hormone