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Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi

Yıl 2013, Cilt: 35 Sayı: 4, 575 - 579, 30.12.2013

Hande Küçük Kurtulgan Fatih Bolat Gülseren Erkoca Göktolga Nejmiye Akkuş Şenol Çitli İlhan Sezgin

Öz

Adams Oliver syndrome was first described by Adams and Oliver in 1945. It is a syndrome characterized by aplasia cutis congenita and terminal transverse limb defects of variable severity. A one-day-old female neonate was admitted to the neonatal intensive care unit with aplasia cutis congenita and limb defects. The diagnosis of Adams Oliver syndrome was based on the typical disease features, together with typical appearances on radiography. In this case report, we present a case diagnosed with Adams Oliver syndrome and we also discuss the clinical findings of patients with Adams Oliver syndrome reported in the literature.

Anahtar Kelimeler

Adams Oliver syndrome aplasia cutis congenita clinical features limb defects

Kaynakça

  • Adams FH, Oliver CP. Hereditary deformities in man: due to arrested development. J Hered 1945; 36: 3-7.
  • McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008; 146A: 488-91. Farrell SA, Warda LJ, LaFlair P, Szymonowicz W. Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax. Am J Med Genet 1993; 47: 1175-9.
  • Mempel M, Abeck D, Lange I, Strom K, Caliebe A, Beham A, Kautza M, Worret WI, Neubauer BA, Ring J, Schröder H, Fölster-Holst R. The wide spectrum of clinical expression in Adams Oliver syndrome: a report of two cases. Br J Dermatol 1999; 140: 1157-60.
  • Küster W, Lenz W, Kääriäinen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988; 31: 99-115.
  • Koiffmann CP, Wajntal A, Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 1988; 29: 263-8. Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, Guschmann M, Sarioglu N. Autosomal recessive type of Adams-Oliver syndrome: Prenatal diagnosis. Ultrasound Obstet Gynecol 2002; 20: 506-10.
  • Unay B, Sarici SU, Gül D, Akin R, Gökçay E. Adams-Oliver syndrome: Further evidence for autosomal recessive inheritance. Clin Dysmorphol 2001; 10: 223-5. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet 1991; 40: 319-26.
  • Sankhyan N, Kaushal rk, Jaswal RS Adams-Oliver syndrome: a case with complete expression. J Dermatol 2006; 33: 435-6.
  • Narang T, Kanwar AJ, Dogra S. Adams-Oliver syndrome: a sporadic occurrence with minimal disease expression. Pediatr Dermatol 2008; 25: 115-6.
  • Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet 2003; 11: 457-63.
  • Swartz EN, Sanatani S, Sandor GG, Schreiber RA. Vascular abnormalities in Adams-Oliver syndrome: cause or effect? Am J Med Genet 1999; 82: 49-52.
  • Seo JK, Kang JH, Lee HJ, Lee D, Sung HS, Hwang SW. A case of Adams-Oliver syndrome. Ann Dermatol 2010; 22: 96-8.
  • Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W. AdamsOliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. Clin Genet 2006; 69: 86-92.
  • Bonafede RP, Beighton P. Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet 1979; 3: 35-41.
  • Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 2011; 88: 574-85.
  • Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012; 91: 391-5.
  • Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011; 89: 328-33.

Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi

Yıl 2013, Cilt: 35 Sayı: 4, 575 - 579, 30.12.2013

Hande Küçük Kurtulgan Fatih Bolat Gülseren Erkoca Göktolga Nejmiye Akkuş Şenol Çitli İlhan Sezgin

Öz

Adams Oliver Sendromu ilk defa 1945 yılında Adams ve Oliver tarafından tanımlanmıştır. Aplasia kutis konjenitale ve değişik derecede transvers ekstremite defektleri ile karakterize bir sendromdur. Bir günlük kız bebek aplazi kutis konjenita ve ekstremite defekti ile yenidoğan yoğun bakım ünitemize yatırıldı. Tanısı klinik özellikleri ve radyolojik bulgular ile konuldu. Bu olgu sunumunda biz, Adams Oliver sendromlu bir vaka sunduk ve literatürde bildirilen Adams Oliver sendromlu olguların klinik özelliklerini tartıştık.

Anahtar Kelimeler

Adams Oliver sendromu aplazi kutis konjenita klinik özellikler; ekstremite defektleri

Kaynakça

  • Adams FH, Oliver CP. Hereditary deformities in man: due to arrested development. J Hered 1945; 36: 3-7.
  • McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008; 146A: 488-91. Farrell SA, Warda LJ, LaFlair P, Szymonowicz W. Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax. Am J Med Genet 1993; 47: 1175-9.
  • Mempel M, Abeck D, Lange I, Strom K, Caliebe A, Beham A, Kautza M, Worret WI, Neubauer BA, Ring J, Schröder H, Fölster-Holst R. The wide spectrum of clinical expression in Adams Oliver syndrome: a report of two cases. Br J Dermatol 1999; 140: 1157-60.
  • Küster W, Lenz W, Kääriäinen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988; 31: 99-115.
  • Koiffmann CP, Wajntal A, Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 1988; 29: 263-8. Becker R, Kunze J, Horn D, Gasiorek-Wiens A, Entezami M, Rossi R, Guschmann M, Sarioglu N. Autosomal recessive type of Adams-Oliver syndrome: Prenatal diagnosis. Ultrasound Obstet Gynecol 2002; 20: 506-10.
  • Unay B, Sarici SU, Gül D, Akin R, Gökçay E. Adams-Oliver syndrome: Further evidence for autosomal recessive inheritance. Clin Dysmorphol 2001; 10: 223-5. Whitley CB, Gorlin RJ. Adams-Oliver syndrome revisited. Am J Med Genet 1991; 40: 319-26.
  • Sankhyan N, Kaushal rk, Jaswal RS Adams-Oliver syndrome: a case with complete expression. J Dermatol 2006; 33: 435-6.
  • Narang T, Kanwar AJ, Dogra S. Adams-Oliver syndrome: a sporadic occurrence with minimal disease expression. Pediatr Dermatol 2008; 25: 115-6.
  • Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet 2003; 11: 457-63.
  • Swartz EN, Sanatani S, Sandor GG, Schreiber RA. Vascular abnormalities in Adams-Oliver syndrome: cause or effect? Am J Med Genet 1999; 82: 49-52.
  • Seo JK, Kang JH, Lee HJ, Lee D, Sung HS, Hwang SW. A case of Adams-Oliver syndrome. Ann Dermatol 2010; 22: 96-8.
  • Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W. AdamsOliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. Clin Genet 2006; 69: 86-92.
  • Bonafede RP, Beighton P. Autosomal dominant inheritance of scalp defects with ectrodactyly. Am J Med Genet 1979; 3: 35-41.
  • Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 2011; 88: 574-85.
  • Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012; 91: 391-5.
  • Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011; 89: 328-33.
Toplam 16 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Olgu Sunumları
Yazarlar

Hande Küçük Kurtulgan

Fatih Bolat

Gülseren Erkoca Göktolga

Nejmiye Akkuş

Şenol Çitli

İlhan Sezgin

Yayımlanma Tarihi 30 Aralık 2013
Yayımlandığı Sayı Yıl 2013Cilt: 35 Sayı: 4

Kaynak Göster

AMA Küçük Kurtulgan H, Bolat F, Erkoca Göktolga G, Akkuş N, Çitli Ş, Sezgin İ. Adams Oliver sendromlu bir yenidoğan: Bir olgu sunumu ve literatür değerlendirmesi. CMJ. Aralık 2013;35(4):575-579.