Öz
Shprintzen-Goldberg syndrome is a rare syndrome with craniosynostosis of coronal, sagittal or lambdoidal sutures, dolichocephaly, typical craniofacial features, skeletal abnormalities, scoliosis, joint hyperextensibility or contractures, neurological findings and brain malformations. Fifteen months old male patient with hydrocephalus and dysmorphic facial appearance was referred to our clinic for genetical evaluation. In his dysmorphic examination, the findings were dolichocephaly, prominent forehead and glabella, hypertelorism, prominent eyes, proptosis, depressed nasal root, anteverted nostrils, small nose, low-set and posteriorly rotated, dysplastic ears, microretrognathia, short philtrum, fish mouth of mouth, plump cheeks, high and narrow palate, secondary alveolar arch, pectus carinatum. Hands were small and he had arachnodactyly. Toes were thin. He had also hypotonia and umbilical hernia. With these findings, he was clinically diagnosed as Shprintzen-Goldberg syndrome. This is the first reported case of ShprintzenGoldberg syndrome from Turkey according to literature review.
Anahtar Kelimeler
Shprintzen-Goldberg syndrome dolichocephaly craniosynostosis
Kaynakça
- 1. Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, et al. Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet 1998; 76: 202-12.
- 2. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006; 140: 104-8.
- 3. Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. J Ultrasound Med 2005; 24: 703-6.
- 4. Elmistekawy E, Hudson CC, Williams A, Mesana T. Double-valve surgery in Shprintzen-Goldberg syndrome. Asian Cardiovasc Thorac Ann 2014; 22: 842-5.
- 5. Pavone V, Leonardi R, Sorge G, Pavone P, Pratico A, Sessa G. A patient with Shprintzen Goldberg syndrome. Clinical follow-up for twelve years. J Pediatr Sci 2012; 4: e164.
- 6. Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 2012; 91: 950-7.
Öz
Kaynakça
- 1. Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, et al. Shprintzen-Goldberg syndrome: a clinical analysis. Am J Med Genet 1998; 76: 202-12.
- 2. Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, et al. Molecular pathology of Shprintzen-Goldberg syndrome. Am J Med Genet A 2006; 140: 104-8.
- 3. Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. J Ultrasound Med 2005; 24: 703-6.
- 4. Elmistekawy E, Hudson CC, Williams A, Mesana T. Double-valve surgery in Shprintzen-Goldberg syndrome. Asian Cardiovasc Thorac Ann 2014; 22: 842-5.
- 5. Pavone V, Leonardi R, Sorge G, Pavone P, Pratico A, Sessa G. A patient with Shprintzen Goldberg syndrome. Clinical follow-up for twelve years. J Pediatr Sci 2012; 4: e164.
- 6. Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 2012; 91: 950-7.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Tıbbi Genetik (Kanser Genetiği hariç) |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 31 Ağustos 2018 |
| Yayımlandığı Sayı | Yıl 2018 Cilt: 19 Sayı: 2 |