Approaching a dysmorphic newborn

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. 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. 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]. 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

Sensorineural hearing impairment is a common feature of consanguineous marriage

Sensorineural hearing loss [SNHL] accounts for about 60% of all hearing loss. This is sometimes also called [Nerve deafness]. The term [Sensorineural] is used to indicate that there is either a cochlear or an eight nerve lesion. The diagnosis of Sensorineural hearing loss is made through audiometry, which shows a significant hearing loss without [The air-bone gap] that is characteristic of conductive hearing disturbances. Among various risk factors described for deafness, consanguinity is an established high risk. This work was carried out to study the prevalence of sensorineural hearing loss in offsprings of consanguineous marriage, who attended the Medical Genetics Center, Ain Shams University. The study was performed on 950 children with congenital hearing loss. Consanguineous marriage was present in 71.2% of studied cases, 47.3% of these cases, parents were 1st cousin, in 36.7% parents were 2nd cousin, 16% had remote consanguinity. 28.8% of cases were the offspring of non-consanguinous marriage. Also, the results showed that 44.2% of cases had severe degree of Sensorineural hearing loss [71-90 dBHL], 24.3% had profound hearing loss [>90 dBHL]. Autosomal dominant inheritance [AD] hearing loss was detected in 40% of cases. Autosomal recessive inheritance hearing loss was discovered in 27% of cases, and in 18.7% of study cases the hearing loss was associated with genetic syndromes, where 88.8% of these cases were associated with Down syndrome. The incidence of hereditary hearing impairement is commoner in developing counteries compared to developed counteries, so, prevention is essential to reduce the incidence of genetic hearing loss. Premarital and antenatal screening should be applied whenever possible, at least for those at risk of developing genetic diseases including hearing impairement