Tricho-rhino-phalangeal syndrome type I
TURKISH JOURNAL OF PEDIATRICS, cilt.38, sa.4, ss.537-542, 1996 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 38 Sayı: 4
- Basım Tarihi: 1996
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.537-542
- Anahtar Kelimeler: tricho-rhino-phalangeal syndrome, cone-shaped epiphysis
- Dokuz Eylül Üniversitesi Adresli: Hayır
Özet
Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.