Genetic study of congenital limb anomalies among Egyptian children

Abstract

Objective: This study has been conducted to reveal genetically-determined
factors that underlie the development of congenital limb anomalies among
a sample of Egyptian infants and children. These data might prove useful in taking preventive measures and/or providing proper counseling to concerned families.
Subjects and Methods: The study comprised studying 140 (One hundred and forty) Egyptian children with congenital limb anomalies. They consisted of (98) males and (42) females ranging in age from 10 days to 18 years. All cases were selected from among patients attending the outpatient medical genetics clinic, faculty of medicine, Ain-Shams university, Cairo-Egypt. Enrolled cases were subjected to a list of investigations including complete history with pedigree construction, anthropometric measurements and full clinical examination. In addition, specific radio-imaging studies and laboratory investigations were done for cases necessitating further diagnostic workup. Results: The results of the study revealed that isolated limb anomalies were found in (55) patients representing (39.3%) of cases. The remaining eighty five (85) patients constituting (60.7%) of enrolled cases comprised two groups: those with limb defects as part of a well defined genetic syndrome (Syndromic limb defects) (76 patients - 54.3%) and those with limb defects as part of a chromosomal aberration syndrome (9 patients - 6.4%). Genealogical data of the study revealed that parental consanguinity is found in (47.3%) of cases with isolated limb defects, in (72.3%) of cases with syndromic limb defects and in (44.4%) of cases with limb defects due to chromosomal abnormalities. Valid history of prenatal drug intake by the mother was found in (43.6%) of cases with isolated limb defects, in (25%) of syndromic limb defects and in none of the cases with chromosomal abnormalities.
Conclusions: Detailed analysis of data of the study drew useful  recommendations regarding many aspects like the possibility of prenatal diagnosis of most cases as well as the availability of many curative and/or palliative intervention measures for early detected and managed cases. Of prime importance, however, is the urgent need of alerting gynecologists and obstetricians taking care of pregnant women to the important role played by iatrogenic prescription of drugs during pregnancy in causation of many types of congenital limb anomalies. Cessation of this non-based evidence medical attitude is necessary and can result in a significant reduction in drug-induced congenital limb anomalies among newborns.

Key Words: Limb anomalies, Egyptian children, consanguinity, chromosomal abnormalities.