A case of Tricorhinophalangeal syndrome

Sanli H. E., Parlak N., AKAY B. N., ILGIN RUHİ H., Oktem B.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.48, sa.3, ss.156-159, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.4274/turkderm.71363
  • Dergi Adı: TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.156-159
  • Anahtar Kelimeler: Cone-shaped epiphyses, hypotrichosis, Trichorhinophalangeal syndrome, SYNDROME TYPE-I, TRICHORHINOPHALANGEAL-SYNDROME, GROWTH, GENE
  • Ankara Üniversitesi Adresli: Evet

Özet

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and various skeletal abnormalities. TRPS type 1 differs from type 2 by the absence of mental retardation and exocytosis and from type 3 by the absence of shortening in generalized phalanges, metacarpals and metatarsals. Systemic symptoms, such as renal and cardiac defects, growth retardation and mental retardation may accompany TRFS. Herein, we present a 10-year-old girl who was diagnosed with TRPS type 1 accompanied by sparse, weak and slow-growing hair since birth, thinning of the lateral portion of the eyebrows, long philtrum, pear-shaped nose with a typical triangular facial appearance, camptodactyly of the finger joints, in radiological evaluation, cone-shaped epiphyses in hands and feet phalanges, and malocclusion. The patient was with normal cytogenetic, no deletion of 8q24 was detected.