Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly

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Kurtoglu S., Atabek M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.16, sa.5, ss.795-798, 2003 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 16 Sayı: 5
• Basım Tarihi: 2003
• Doi Numarası: 10.1515/jpem.2003.16.5.795
• Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.795-798
• Erciyes Üniversitesi Adresli: Evet

Özet

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.