Approaching a Dysmorphic Newborn

  • SM El-Din
  • MN Farid
  • AR Ramy


Background: Dysmorphology combines concepts, knowledge and techniques from field of embryology, clinical genetics and pediatrics. It deals with people who have congenital abnormalities and their families. Clinical delineation of dysmorphism and dysmorphic syndromes is crucial for patient management and family counseling. Patients and Method: Forty case mothers and neonates, 83 control mothers and neonates were recruited in the study. Face to face interviews were conducted with the mothers of both cases and controls. Case's mothers and neonates were subjected to certain investigations according to dysmorphic anomaly and when needed. Results: The study showed that increased risk of having a dysmorphic child was associated with high consumption of legumes and the use of kerosene in cooking stoves. Their Odd Ratio (OR) and Confidence Interval (CI) respectively were [OR=15558.0; CI 137.0-17716.2] and [OR=186.7; CI 42.3-824.5]. Maternal demographic risk factors were, medication intake (OR=29.62; CI 3.38-112.5), diseases during pregnancy (OR=24.13; CI 5.92-114.18), maternal occupation (OR=15.4; CI 1.78-132.8), and educational attainment (OR=2.85; CI 1.19-6.86). In rural areas the rate of having dysmorphic child is higher than that in urban areas (OR=11.85; CI 3.60-38.99), (p-value=0.00). Consanguinity (OR=4.35; CI 1.927-9.796), was a key risk factor contributing to dysmorphology. Drinking water which is obtained by pumps was significant in this study (OR=27.3; CI 3.4-222.7) as well as ghee consumption (OR=6.3; CI 2.4-16.4). Conclusion: In conclusion, the considerable challenge posed by dysmorphic abnormalities calls for the development of prevention programs through the establishment of community genetic services particularly those related to maternal education and environmental exposures. These primary prevention measures should be integrated into primary health care.

Keywords: Dysmorphology, morphogenesis, dysmorphic syndromes, teratology, ecogenetics

Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 23-40

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eISSN: 1110-8630