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1.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 491-493
Article in English | IMSEAR | ID: sea-156622

ABSTRACT

A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell’s pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here


Subject(s)
Adult , Ectopia Cordis/epidemiology , Ectopia Cordis/genetics , Female , Hernia, Umbilical/epidemiology , Hernia, Umbilical/genetics , Hernia, Umbilical/mortality , Humans , Infant, Newborn , Infant, Premature , Male , Stillbirth
2.
Indian J Pediatr ; 2004 Jun; 71(6): 545-7
Article in English | IMSEAR | ID: sea-82937

ABSTRACT

An association of unilateral pulmonary agenesis with in situ neuroblastoma of adrenal gland in a newborn having multiple congenital anomalies is being reported. Polycystic right kidney and absent left kidney, leading to severe oligohydramnios with secondary Potter's syndrome and Breech deformation sequence, were additional malformations present in our proposita.


Subject(s)
Abnormalities, Multiple/pathology , Adrenal Gland Neoplasms/pathology , Humans , Infant, Newborn , Infant, Premature , Infant, Very Low Birth Weight , Kidney/abnormalities , Lung/abnormalities , Male , Neuroblastoma/pathology
3.
Indian J Pediatr ; 2004 May; 71(5): 419-21
Article in English | IMSEAR | ID: sea-80695

ABSTRACT

Allantoic cysts of umbilical cord are very rare. A preterm, low birth weight, male newborn with a new constellation of anomalies, allantoic duct cysts in the umbilical cord and associated perinatally lethal malformations of VACTERL sequence, is reported. In addition, the neonate also had duodenal atresia, patent urachus, obstructive uropathy and bifid scrotum. Association of Allantoic cysts with VACTERL sequence has not been described earlier.


Subject(s)
Abnormalities, Multiple/diagnosis , Duodenum/abnormalities , Fatal Outcome , Humans , Infant, Newborn , Male , Musculoskeletal Abnormalities/diagnosis , Scrotum/abnormalities , Tracheoesophageal Fistula/complications , Urachal Cyst/complications , Urachus
4.
Indian J Pediatr ; 2004 Apr; 71(4): 357-8
Article in English | IMSEAR | ID: sea-81311

ABSTRACT

Acute appendicitis is rare in term neonates. In most of the reported cases, it is seen as a complication of necrotizing enterocolitis, Hirschsprung's disease, cystic fibrosis, meconium plug, inguinal hernia, umbilical hernia, Group B Streptococcal septicemia and chorioamnionitis. A surviving term male newborn with isolated acute appendicitis with perforation is reported. A high index of suspicion of acute appendicitis, early surgery and the importance of a thorough search for a perforation in cases of neonatal acute abdominal distention is stressed. Literature of this rare condition is reviewed briefly.


Subject(s)
Acute Disease , Appendectomy , Appendicitis/diagnosis , Humans , Infant, Newborn , Laparoscopy , Male
6.
Indian Pediatr ; 2003 Sep; 40(9): 891-4
Article in English | IMSEAR | ID: sea-6854

ABSTRACT

A case of Limb body wall complex is reported in a preterm, Low birth weight and stillborn neonate. The proposita had abdominal wall defect with evisceration of the organs into an amnio-peritonial sac, a short body stalk, torsion of spine with scoliosis and limb defects. Unusual associations present in this case were absent thymus, interstitial calcification in kidney and a history of exposure to birth control pills during first two months post-conception.


Subject(s)
Abdominal Muscles/abnormalities , Abnormalities, Multiple , Adult , Contraceptives, Oral , Female , Fetal Death , Humans , Limb Deformities, Congenital/etiology , Maternal-Fetal Exchange , Pregnancy
7.
Indian J Pediatr ; 2003 Sep; 70(9): 761-2
Article in English | IMSEAR | ID: sea-83696
8.
Indian J Pediatr ; 2003 Jun; 70(6): 509-11
Article in English | IMSEAR | ID: sea-83084

ABSTRACT

Group B Streptococcus (Streptococcus agalactiae) is a well-known cause of early and late onset infections in neonates and very young infants. Recently attention has focused on the changing spectrum of invasive Group B Streptococcus (GBS) disease, including children beyond early infancy and non-pregnant adults. There is very little information available on invasive GBS infection especially meningitis in pediatric population older than three months of age. We report a case of uncomplicated meningitis due to GBS in a previously healthy 5-year-old boy. The literature on infection especially meningitis caused by Group B Streptococcus beyond infancy is reviewed.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Ceftriaxone/therapeutic use , Child, Preschool , Humans , Male , Meningitis, Bacterial/diagnosis , Streptococcal Infections/diagnosis , Streptococcus agalactiae/isolation & purification , Treatment Outcome
9.
Indian J Pediatr ; 2003 Jan; 70(1): 105-7
Article in English | IMSEAR | ID: sea-78375

ABSTRACT

An association of Amniotic Band Disruption Sequence and Mermaid Syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid Syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicomuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed.


Subject(s)
Abnormalities, Multiple/pathology , Amniotic Band Syndrome/pathology , Craniofacial Abnormalities/pathology , Ectromelia/etiology , Fatal Outcome , Female , Humans , Infant, Newborn , Limb Deformities, Congenital/pathology , Syndrome
10.
Indian J Pediatr ; 2002 Dec; 69(12): 1093-5
Article in English | IMSEAR | ID: sea-84382

ABSTRACT

A rare case of sirenomelia in a LBW, IUGR & second of a dizygotic twin having multiple congenital anomalies is being reported. Apart from the features of sirenomelia, the newborn had a single umbilical artery, radial hypoplasia, total anorectal & urogenital agenesis and undetermined sex. The single umbilical artery had a normal origin from the iliac artery. There was no Vitelline arterial steal phenomenon. Theories put forward regarding etiopathogenesis are discussed. We conclude that the anomalies in the present case are difficult to be explained with earlier proposed theories. This puts an emphasis on reconsideration of old theory of genetic injury to the embryo by unknown factors.


Subject(s)
Abnormalities, Multiple , Autopsy , Ectromelia/pathology , Humans , Infant, Newborn , Twins, Dizygotic
11.
Indian Pediatr ; 2002 Oct; 39(10): 967-9
Article in English | IMSEAR | ID: sea-8538
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