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Journals / Medical Network Klinik Bilimler ve Doktor / 2005 / Cilt: 11 - Sayı: 6

A case of cebocephaly associated with holoprosencephaly

Holoprozensefali ile birliktelik gösteren bir sebosefali olgusu

Barış MÜLAYİM
Yiğit Nilüfer ÇELİK
Sema MÜLAYİM
Özgür AYDIN
Filiz YANIK
Pages
667–670
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Cephalic disorders are not necessarily caused by a single factor, but may be influenced by hereditary or genetic conditions or by environmental factors such as medication taken by the mother, maternal infection, or exposure to radiation during pregnancy.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:n this report, a case of cebocephaly (monkey face) associated with holoprosencephaly is presented, which is characterized by flattened nose with a single nostril situated below closely set eyes.
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Key Findings & Data:Peripheral blood sample from the anomalous baby disclosed a normal, 46XY karyotype.
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Conclusion & Impact:Cephalic disorders are not necessarily caused by a single factor, but may be influenced by hereditary or genetic conditions or by environmental factors such as medication taken by the mother, maternal infection, or exposure to radiation during pregnancy.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Holoprosensefali · Kraniyofasiyal anomaliler · Holoprosencephaly

Abstract

n this report, a case of cebocephaly (monkey face) associated with holoprosencephaly is presented, which is characterized by flattened nose with a single nostril situated below closely set eyes. The mother had no regular antenatal follow-up. There was consanguinity between the mother and the father. Peripheral blood sample from the anomalous baby disclosed a normal, 46XY karyotype. Our objective is to review how to diagnose cebocephaly-holoprosencephaly sequences prenatally, which are rarely seen craniofacial malformations, and we also want to mention the paramount role of antenatal screening. Holoprosencephaly is usually associated with facial anomalies. Cephalic disorders are not necessarily caused by a single factor, but may be influenced by hereditary or genetic conditions or by environmental factors such as medication taken by the mother, maternal infection, or exposure to radiation during pregnancy.

Özet

Bu yazıda, sebosefali (maymun yüz) ile birlikte holoprozensefali anomalisi bulunan bir vaka anlatılmaktadır. Sebosefali birbirine yakın ve gelişme bozukluğu olan gözler, basık bir burun ve tek burun deliği ile karakterize bir yüz anomalisidir. Olgumuzda annenin düzenli gebelik takipleri yoktu. Anne ve baba arasında akrabalık vardı. Anomalili bebeğin periferik kan örneğinden yapılan kayotip incelemesi 46XY olarak açıklandı. Burada amacımız nadir görülen kraniofasial malformasyonlardan sebosefali-holoprozensefali anomalisinin prenatal tanısını gözden geçirmek ve aynı zamanda antenatal taramanın önemini vurgulamaktır. Holoprozensefali genellikle yüz anomalileri ile birliktedir. Sefalik anomaliler tek bir faktöre bağlı oluşmaz; herediter ya da genetik faktörler, veya maternal ilaç kullanımı, maternal infeksiyon, radyasyona maruz kalma gibi çevresel faktörler etkili olabilir.

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Cite This Article

MÜLAYİM, B., ÇELİK, Y. N., MÜLAYİM, S., AYDIN, Ö., YANIK, F. (2005). A case of cebocephaly associated with holoprosencephaly. Medical Network Klinik Bilimler ve Doktor, Cilt: 11 - Sayı: 6, 667–670. https://ajindex.com/articles/278480

References (8)

  1. Dorland's Illustrated Medical Dictionary. Twenty Fifth Edition.WB Saunders 1974:278
  2. Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic Hedge-hog gene cause holoprosencephaly. Nat Genet 1996; 14:357-60
  3. Fleischer, Manning, Jeanty, Romero. Sonography in Obstetrics and Gynecology. Principles & Practice. Fifth Edition.Appleton & Lange 1996:382-3 4. Moore, Persaud. The Developing Human. 6th. Edition. W.B.Saunders 1998:451-91
  4. Lai TH, Chang CH, Yu CH, Kuo PL, Chang FM. Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn 2000; 20:400-3
  5. Chen CP, Chern SR, Lee CC, Chen LF, Chuang CY, Chen MH. Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus.Prenat Diagn 1998; 18:393-8
  6. Parant O, Sarramon MF, Delisle MB, Fournie A.Prenatal diagnosis of holoprosencephaly. A series of twelve cases. J Gynecol Obstet Biol Reprod (Paris) 1997; 26:687-96
  7. Chen CP, Lee CC, Chen LF, Chuang CY, Jan SW, Chen BF.Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly. J Med Genet 1997; 34:777-8
  8. Ikeda H, Niizuma H, Suzuki J, Takabayashi T, Ozawa N. A case of cebocephaly-holoprosencephaly with an aberrant adenohypophysis. Childs Nerv Syst 1987; 3:251-4. 10.Schwartz S, Meekins J, Panny SR, Sun CC, Cohen MM.Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46, XX, del (7)7.(pterleadstoq 32:)]. Am.J.Med. Genet 1983; 15:141-4. 11.Balci S, Onol B, Ercal MD, Gunay M, Besim A, Eryilmaz M.Autosomal recessive alobar holoprosencephaly with cylops in three female sibs.prenatal ultrasonographic diagnosis at 18th week. Clin Dysmorphology 1993; 2:165-8. 12.Whiteford ML, Tolmie JL: Holoprosencephaly in the west of Scotland 1975-1994. J Med Gen 1996; 33:578-84.