#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

The clefts as inborn defects


Authors: Miloslav Kuklík
Authors‘ workplace: Genetické oddělení, Praha 3
Published in: Čas. Lék. čes. 2013; 152: 185-191
Category: Review Article

Overview

The article refers usual facial clefts, which are not rare anomalies. Relation to other forms of so-called midline defects (limb clefts) is indicated. Syndromic and unusual clefts are rarer than isolated non-syndromic clefts. Clinical features, including minimal symptomatology, etiopathogenesis and population frequency are discussed. From the diagnostic point of view specific, prenatal, postnatal and differential diagnostic approaches are recognized. Preventive aspects, therapy and management of the disease (for cleft lip and palate defects, median cleft palate, broad spectrum of neural tube defects including anencephaly, limb clefts etc.) are important. We estimated the empiric risk of the recurrence and suggest methods for preconceptional preventive care.

Keywords:
cheilognathopalatoschizis – cleft palate – neural tube defects – limb clefts – etiopatogenesis – heredity – empiric risks and preconceptional care


Sources

1. Lynch HT, Kimberling WJ. Genetic counseling in cleft lip and cleft palate. Plast Reconstr Surg 1981; 68: 800–815.

2. Goodman RM, Gorlin RJ. The malformed infant and child. Oxford: University Press 1983.

3. Kuklík M, Mařík, I., First, T. Syndromy spojené s poruchou rotace orgánů – situs viscerum inversus. Pohybové ústrojí 2004; 11: 78–90.

4. Boo-Chai K. The transverse facial cleft: its repair. Br J Plast Surg 1969; 22: 119–124.

5. Boo-Chai K. The oblique facial cleft? A report of two cases and a review of 41 cases. Br J Plast Surg 1970; 23: 352–359.

6. Crandall BF, Lebherz TB, Freihube R. Neural tube defects: maternal serum and prenatal diagnosis. Pediatr Clin N Am 1978; 254: 619–629.

7. Milunski A, Alpert E. Prenatal diagnosis of neural defects. Obstet Gynecol 1976; 48: 1–5, 1976; 49: 6–12, 1977; 49: 532–536, 1980; 55: 1980; 60–66.

8. Cohen MM, Jr, Lemire RJ. Syndromes with cephaloceles. Teratology 1982; 25: 161–172.

9. Harverson G, Bailey IC, Kiryabwire JWM. The radiological diagnosis of anterior encephaloceles. Clin Radiol 1974; 25: 317–322.

10. Mc Laurin RL. Parietal cephaloceles. Neurology (Minneap.) 1964; 14: 764–772.

11. Pietrzyk JJ. Neural tube malformations: complex segregation analysis and recurrence risk. Am J Med Genet 1980; 7: 293–300.

Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#