Congenital diseases in the newborn infants - Sudanjp.org

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2. Congenital Laryngeal Stenosis.3. Diaphragamatic Hermia.(10) Congenital Diseases of the Digestive SystemI. Hare-lip and cleft-palate.2. Micrognathic.3. Duodenal atresia.4. Congenital Pyloric Stenosis.5. Malrotation of the gut.6. Hirschsprung's Disease.7. Imperforate anus and rectal atresia.(J I) Congenital Diseases of the liver and hile.I. Glycogen disease.2. Congenital atresia of the bile ducts.(12) Congenital Diseases of the Skin.I. Congenital Icthyosis.2. Congenital Syphilis.3. Albinism.Clinical Manifestation in the Newborn Infant.(I) Congenital SkeletalDiseases.J. Osteogenesis ImpefectaThis is the intrauterine type of the disease, which manifest in the newbornby extremely thin cranial bones and generalized multiple fractures. The scleraehave strikingly blue appearance. It is definitely hereditary, but there is considerablevariation in the degrees of penetrance, Some familities showed a dominantgenetic defect.Most infants die in utero, during delivery or soon after. Subarachnoidhaemorrhages seem to be the immediate cause of death.(2) Congenital Malformations of the Extremeties.(a) Phocomelia. - i.e. great reduction in size of proximal parts of the limbmay be of genetic origin. The thalidomide tragedy resulted in a large numberof phocomeliae of the upper limbs in Europe. This tranquillizing drug givenduring the early weeks of pregnancy, the most dangerous period was between28 to 42nd. day of onset of pregnancy. Other congenital anomalies includedatresia or stenosis of oesophagus and duodenum.(b) Syndactyly, Polydactyly and Macrodactyly can occur alone or in associationwith other congenital malformations.204
(3) AchondroplasiaThe disease is hereditary, which may be dominant or recessive. The defectinvolves ossification of cartilage and leads to shortening of limbs. It can bediagnosed by an antenatal radiological picture. At births the clinical pictureof short limbs and the relatively large head is diagnostic. The majority of casesare either still-born or die soon after birth.(4) Gargoylism. (Chondro-Osteo -- dystrophy)This is a familial disease, and if one baby is affected in a family, the recognitionof another similarly affected new-born infant becomes possible. The fullydeveloped manifestations of hepatosplenamegaly, mental retardation, kyphosis,dwarfism, corneal cloudiness appear later. The disorder is geneticallydetermined being caused by an autosomal recessive disease. The basic metabolicdisturbances is now known to be intracellular shortage of mucopolysaccharide,which can be found in the urine in high concentration from birth.In a family under my care the first-born infant was affected. The followingtwo pregnancies occurred in United States where the father was working inthe Sudan Embassy. Aminocentesis was carried out there at the 4th. month ofpregnancy and correct diagnosis of the second affected baby and a thi rd normalnew-born was achieved at each occasion.(5) Sacra-coccygeal agenesis.Congenital absence of the Sacrum has a characteristic physical appearance,which is lack of prominence of the buttocks with absence ofa groove betweenthem. X-ray shows absence of sacral and coccygeal bones. The defect is notfamilial.(6) Craniosynostosis.Congenital premature closure of cranial sutures leads to deformity of headand may cause damage to the brain and eyes. The defect is not common.(7) (a) Scapocephaly >- the head is large and narrow due to prematureclosure of sagittal suture.(b) Crania facial dysostosis (Crouzon's disease), is characterized byacrocephaly - (the head anteriorly), exophthalmos, external strabismus, hypoplasticmaxilla, a beak-shaped nose, short upper lip and protruding lowerlip. It is transmitted as a dominant hereditary trait. The condition is progressivefrom birth.(3) Congenital Diseases of the muscles.1. Arthogryposis multiplex Congenita. (Amyoplasia Congenita).The infant is born with fixation of the large joints in extension or flexionand with considerable aplasia of muscle groups. It is a rare disease with predominancein males.205
Page 1 and 2: CONGENITAL nISEASES IN THE NEWBORN
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Congenital diseases in the newborn infants - Sudanjp.org

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