2008, Number 2
<< Back Next >>
Rev Mex Pediatr 2008; 75 (2)
Congenital malformations: morphogenic fundaments and classification
Aviña FJA, Tastekin A
Language: Spanish
References: 15
Page: 71-74
PDF size: 77.07 Kb.
ABSTRACT
In the diagnostic of children with malformations it is necessary to think if those were do produced during the embryomorphogenesis or in other stages of the intrauterin development. The dysmorphology is the field for the study of the congenital developmental defects, it has aim to organize and standardize the clinical descriptions of malformations. This report give a short summary of this approach.
REFERENCES
Smith WD. Dysmorphology. J Pediatr 1966; 69: 1150-69.
Schinzel A. All I wanted to know about congenital developmental defects. Eur J Hum Genet 2008; 16: 274.
Biesecker LG. Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations. Clin Genet 2005; 68: 320-6.
Lippig KA, Werler MM, Caron CI, Cook CA, Holmes LB. Predictive value of minor abnormalities: association with major malformations. J Pediatr 1987; 110: 530-7.
Martínez FML. Rodríguez PE, Bermejo SE, Urioste AM, Villa MA, Lorda SI, Frías JL. Etiologic distribution of children with congenital defects. An Esp Pediatr 1996; 45: 635-8.
Martínez FML, Bermejo E, Frías JL. Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects. Am J Med Genet 2000; 90: 246-9.
Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr 1982; 100: 160-5.
Kalter H. Congenital malformations: an inquiry into classification and nomenclature. J Med Genet 1998; 35: 661-5.
Martínez FML, Frías JL, Opitz JM. Errors of morphogenesis and developmental field theory. Am J Med Genet 1998; 76: 291-6.
Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G. Developmental field defects: coming together of associations and sequens during blastogenesis. Am J Med Genet 2002; 110: 320-3.
Martínez FML. Approaches to the analysis of infants with multiple congenital anomalies. Am J Med Genet 2001; 101: 33-5.
Hunter AG. Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs. Canadian Medical Assoc J 2002; 167: 367-72.
Wang RY, Earl DL, Ruder RO, Graham JM Jr. Syndromic ear anomalies and renal ultrasounds. Pediatrics 2001; 108: 32.
Merks JH, Ozgen HM, Koster J, Zwinderman AH, Caron HN, Hennekam RC. Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA 2008; 299: 61-9.
Puri RD, Verma IC. Dysmorphology diagnosis. Indian J Pediatr 2004; 71: 535-9.