Öz
Holoprozensefali terimi, prozensefalonun farklı safhalardaki ayrılma ve farklılaşma yetersizlikleri ile karakterize bir grup hastalığı tanımlar. Holoprozensefaliye kraniyofasiyal ve ekstrakraniyal (polidaktili, renal displazi, omfalosel, hidrops vb.) anomaliler eşlik edebilir. Bu olgularda genellikle kromozomal anomaliler de vardır. Bu makalede belirgin kulak ve yüz anomalilerin eşlik ettiği nadir bir 11q mozaisizmli holoprozensefali olgusunun bulguları sunuldu
Kaynakça
- Hahn JS, Barnes PD, Clegg NJ, Stashinko EE. Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. AJNR Am J Neuroradiol 2010; 31: 1596-601.
- Deeg KH, Gassner I. Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. Ultraschall Med 2010; 31: 548-60.
- Franz DN, Ball WS Jr. A Clinical approach to imaging in childhood epilepsia. In: Ball WS Jr, ed. Pediatric neuroradiology. Philadelphia: Lippincott-Raven, 1997: 278-80.
- Barkovich AJ. Congenital malformations of the brain and skull. In: Barkovich AJ (Ed). Pediatric neuroimaging. 4th ed. Philadelphia: Lippincott Williams & Wilkins, 2005; 291-439.
- Bixler D, Ward R, Gale DD. Agnathia-holoprosencephaly: a developmental field complex involving face and brain. Report of 3 cases. J Craniofac Genet Dev Biol Suppl 1985; 1: 241-9.
- Helmuth RA, Weaver DD, Wills ER. Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. Am J Med Genet 1989; 32: 178-81.
- Osborn AG. Disorders of diverticulation and cleavage, sulcation and cellular migration. Diagnostic Neuroradiology. First ed: Chicago: Mosby, 1994; 1: 37-9.
- Şener RN, Savaş R. Serebral destrüktif lezyonlar ve indüksiyon bozuklukları. In: Şener RN (Ed). Pediatrik nöroradyoloji. First ed. Ankara: TRD 1999; pp: 9-18.
Öz
Abstract
The term holoprosencephaly defines a group of diseases characterized by separation and differentiation deficiencies of prosencephalon at different stages of development. Craniofacial and extracranial anomalies (polydactly, renal dysplasia, omphalocel, hydrops etc.) may accompany holoprosencephaly. Chromosomal abnormalities are also present in most of these cases. In this report a rare 11q mosaicism holoprosencephaly case with prominent ear and face anomalies is presented.
Keywords: Holoprosencephaly, Jacobsen Distal 11q Deletion Syndrome, craniofacial abnormalities
Özet
Holoprozensefali terimi, prozensefalonun farklı safhalardaki ayrılma ve farklılaşma yetersizlikleri ile karakterize bir grup hastalığı tanımlar. Holoprozensefaliye kraniyofasiyal ve ekstrakraniyal (polidaktili, renal displazi, omfalosel, hidrops vb.) anomaliler eşlik edebilir. Bu olgularda genellikle kromozomal anomaliler de vardır. Bu makalede belirgin kulak ve yüz anomalilerin eşlik ettiği nadir bir 11q mozaisizmli holoprozensefali olgusunun bulguları sunuldu.
Anahtar sözcükler: Holoprosansefali, Jacobsen Distal 11q Delesyon Sendromu, kafa yüz anormallikleri
Anahtar Kelimeler
Holoprosencephaly Jacobsen Distal 11q Deletion Syndrome craniofacial abnormalities
Kaynakça
- Hahn JS, Barnes PD, Clegg NJ, Stashinko EE. Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. AJNR Am J Neuroradiol 2010; 31: 1596-601.
- Deeg KH, Gassner I. Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia. Ultraschall Med 2010; 31: 548-60.
- Franz DN, Ball WS Jr. A Clinical approach to imaging in childhood epilepsia. In: Ball WS Jr, ed. Pediatric neuroradiology. Philadelphia: Lippincott-Raven, 1997: 278-80.
- Barkovich AJ. Congenital malformations of the brain and skull. In: Barkovich AJ (Ed). Pediatric neuroimaging. 4th ed. Philadelphia: Lippincott Williams & Wilkins, 2005; 291-439.
- Bixler D, Ward R, Gale DD. Agnathia-holoprosencephaly: a developmental field complex involving face and brain. Report of 3 cases. J Craniofac Genet Dev Biol Suppl 1985; 1: 241-9.
- Helmuth RA, Weaver DD, Wills ER. Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. Am J Med Genet 1989; 32: 178-81.
- Osborn AG. Disorders of diverticulation and cleavage, sulcation and cellular migration. Diagnostic Neuroradiology. First ed: Chicago: Mosby, 1994; 1: 37-9.
- Şener RN, Savaş R. Serebral destrüktif lezyonlar ve indüksiyon bozuklukları. In: Şener RN (Ed). Pediatrik nöroradyoloji. First ed. Ankara: TRD 1999; pp: 9-18.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 21 Haziran 2012 |
| Yayımlandığı Sayı | Yıl 2012Cilt: 34 Sayı: 2 |