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Yıl 2015, Cilt: 20 Sayı: 2, 106 - 109, 10.07.2015

Sultan Kaba Murat Doğan Keziban Bulan Selami Kocaman Serap Kılıç Karaman

Öz

Kaynakça

  • Lin AE, Gettig, E. Craniosynostosis, agenesis of the corpus callosum, severe mental retardation, distinctive facies, camptodactyly, and hypogonadism. Am J Med Genet 1990; 35: 582-585.
  • Hedera P, Innis JW. Possible third case of Lin-Gettig syndrome. Am J Med Genet 2002; 110: 380-383.
  • Hootnick D, Holmes LB. Familial polysyndactyly and craniofacial anomalies. Clin Genet 1972; 3: 128-134.
  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes syndromes. In: Syndromes of the Head and Neck: New York: Oxford Univ. Press (pub) (4th ed.). 2001, pp. 995-996.
  • Robinson PN, Neumann LM, Demuth S, et al. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet 2005; 135: 251-2
  • Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009; 4: 9. Pivnick EK,
  • Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 1996; 33: 772- 7
  • Graham JM Jr, Superneau D, Rogers RC, et al. Clinical and behavioral characteristics in FG syndrome. Am J Med Genet 1999; 85: 470-475.
  • Graham JM Jr, Tackels D, Dibbern K, et al. FG syndrome: report of three new families with linkage to Xq12-q22.1. Am J Med Genet 1998; 80: 145-156.
  • Chrzanowska K, Kozlowski K, Kowalska A. Syndromic foramina parietalia permagna. Am J Med Genet 1998; 78: 401-405. et al.
  • Romano C, Baraitser M, Thompson E. A clinical follow-up of British patients with FG syndrome. Clin Dysmorph 1994; 3: 104-114.

Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia

Yıl 2015, Cilt: 20 Sayı: 2, 106 - 109, 10.07.2015

Sultan Kaba Murat Doğan Keziban Bulan Selami Kocaman Serap Kılıç Karaman

Öz

We presented two brothers with craniosynostosis, severe mental retardation,atypical facial appearance, camptodactyly and hypogonadism. In the literature,Lin-Gettig syndrome has been identified in 3 patients so far. To date, only onenovel case was reported in 2002 since 1990 when Lin-Gettig syndrome was firstidentified. These cases have diverse characteristics. The patient who presentedwith growth retardation and his brother with similar clinical characteristicswho recently died were considered as compatible with Lin-Gettig syndrome. Inaddition, our cases have differential clinical characteristics compared to allprevious 3 cases in some degree and double nuchal fold and nail hypoplasia werenovel features. We will discuss these cases as it is an extremely rare entity.

Anahtar Kelimeler

Lin-Gettig syndrome craniosynostosis hypogonadism growth failure

Kaynakça

  • Lin AE, Gettig, E. Craniosynostosis, agenesis of the corpus callosum, severe mental retardation, distinctive facies, camptodactyly, and hypogonadism. Am J Med Genet 1990; 35: 582-585.
  • Hedera P, Innis JW. Possible third case of Lin-Gettig syndrome. Am J Med Genet 2002; 110: 380-383.
  • Hootnick D, Holmes LB. Familial polysyndactyly and craniofacial anomalies. Clin Genet 1972; 3: 128-134.
  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes syndromes. In: Syndromes of the Head and Neck: New York: Oxford Univ. Press (pub) (4th ed.). 2001, pp. 995-996.
  • Robinson PN, Neumann LM, Demuth S, et al. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet 2005; 135: 251-2
  • Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009; 4: 9. Pivnick EK,
  • Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 1996; 33: 772- 7
  • Graham JM Jr, Superneau D, Rogers RC, et al. Clinical and behavioral characteristics in FG syndrome. Am J Med Genet 1999; 85: 470-475.
  • Graham JM Jr, Tackels D, Dibbern K, et al. FG syndrome: report of three new families with linkage to Xq12-q22.1. Am J Med Genet 1998; 80: 145-156.
  • Chrzanowska K, Kozlowski K, Kowalska A. Syndromic foramina parietalia permagna. Am J Med Genet 1998; 78: 401-405. et al.
  • Romano C, Baraitser M, Thompson E. A clinical follow-up of British patients with FG syndrome. Clin Dysmorph 1994; 3: 104-114.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Report
Yazarlar

Sultan Kaba

Murat Doğan Bu kişi benim

Keziban Bulan Bu kişi benim

Selami Kocaman Bu kişi benim

Serap Kılıç Karaman Bu kişi benim

Yayımlanma Tarihi 10 Temmuz 2015
Yayımlandığı Sayı Yıl 2015 Cilt: 20 Sayı: 2

Kaynak Göster

APA Kaba, S., Doğan, M., Bulan, K., Kocaman, S., vd. (2015). Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia. EASTERN JOURNAL OF MEDICINE, 20(2), 106-109.
AMA Kaba S, Doğan M, Bulan K, Kocaman S, Kılıç Karaman S. Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia. EASTERN JOURNAL OF MEDICINE. Temmuz 2015;20(2):106-109.
Chicago Kaba, Sultan, Murat Doğan, Keziban Bulan, Selami Kocaman, ve Serap Kılıç Karaman. “Two Novel Features in Lin-Gettig Syndrome: Double Nuchal Fold and Nail Hypoplasia”. EASTERN JOURNAL OF MEDICINE 20, sy. 2 (Temmuz 2015): 106-9.
EndNote Kaba S, Doğan M, Bulan K, Kocaman S, Kılıç Karaman S (01 Temmuz 2015) Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia. EASTERN JOURNAL OF MEDICINE 20 2 106–109.
IEEE S. Kaba, M. Doğan, K. Bulan, S. Kocaman, ve S. Kılıç Karaman, “Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia”, EASTERN JOURNAL OF MEDICINE, c. 20, sy. 2, ss. 106–109, 2015.
ISNAD Kaba, Sultan vd. “Two Novel Features in Lin-Gettig Syndrome: Double Nuchal Fold and Nail Hypoplasia”. EASTERN JOURNAL OF MEDICINE 20/2 (Temmuz 2015), 106-109.
JAMA Kaba S, Doğan M, Bulan K, Kocaman S, Kılıç Karaman S. Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia. EASTERN JOURNAL OF MEDICINE. 2015;20:106–109.
MLA Kaba, Sultan vd. “Two Novel Features in Lin-Gettig Syndrome: Double Nuchal Fold and Nail Hypoplasia”. EASTERN JOURNAL OF MEDICINE, c. 20, sy. 2, 2015, ss. 106-9.
Vancouver Kaba S, Doğan M, Bulan K, Kocaman S, Kılıç Karaman S. Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia. EASTERN JOURNAL OF MEDICINE. 2015;20(2):106-9.