Congenital malformations prevalent among Egyptian children and associated risk factors

According to the World Health Organization the term congenital anomaly includes any morphological, functional, biochemical or molecular defects that may develop in the embryo and fetus from conception until birth, present at birth, whether detected at that time or not. Based on World Health Organization report, about 3 million fetuses and infants are born each year with major malformations. Several large population based studies place the incidence of major malformations at about 2-3% of all live births. In this study we tried to assess the frequency and nature of congenital malformations [CMs] among Egyptian infants and children as well as the associated maternal, paternal and neonatal risk factors. Patients [13,543] having CMs were detected among 660,280 child aged 0-18 years attending the Pediatric Hospital Ain Shams University during the period of the study [1995-2009], constituting 20/1000. Males were more affected than females [1.8:1]. According to ICD-10 classification of congenital malformations the commonest system involved were, nervous system, followed by chromosomal abnormalities, genital organs, urinary system, musculoskeletal, circulatory system, eye, ear, face, and neck, other congenital anomalies, digestive system, cleft lip and palate, and respiratory anomalies. Among the maternal risk factors detected were multiparity, age of the mother at conception, maternal illness, exposure to pollutants, and intake of the drugs in first months. Consanguineous marriage was detected in 45.8% of patients. Surveys of CMs must be done in every country to provide prevalence, pattern of occurrence, nature, identify causes, and associated risk factors to prevent or reduce the occurrence of CMs

Ellis-van Creveld syndrome with facial dysmorphic features in an Egyptian child

Ellis-van Creveld syndrome [EVC] is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. We report a patient with the typical features of the syndrome but with facial dysmorphic features [upward slant of eyes, megalocornea and high forehead], for the first time in the literature

Holoprosencephaly: a report of 2 cases with different presentations

Holoprosencephaly is a common developmental defect of the forebrain and midface in humans. Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial holoprosencephaly. Here, we describe two unrelated affected cases, with alobar, and semilobar holoprosencephaly with different presentations and clarified the associated phenotypic changes in form of microcephaly, hypotelorism, flat nose, a single nostril, a midline cleft lip and palate in the first case and solitary median maxillary central incisor, associated with prominent midline palatal ridge in the second case

C syndrome in an Egyptian infant with dilated brain ventricles and heterotopia

C syndrome is an autosomal recessive disorder characterized by trigonocephaly, partial or complete obliteration of the metopic suture which is characteristic, and short limbs. In this paper we describe an Egyptian boy affected with this syndrome, with no exophthalmos and with dilated brain ventricles and heterotopia

Frontofacionasal dysplasia: another observation

Frontofacionasal dysplasia [FFND] is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies in which clinical and etiological heterogeneity have been recognized since the first review by Gollop 1981. Frontofacionasal dysplasia is inherited as an autosomal recessive genetic trait. We report on a 10-month-old male whose parents are non consangui-neous. The patient has severe craniofacial anomalies characterized by: hypertelorism, unilateral [right sided] malformed eye, lagophthalmos, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic nasal wing, cleft lip, cleft palate and meningeocele. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia and in our case is associated with facial heamangioma. To our knowledge, facial heamangioma in association with FFND have not been described before