Congenital Anomalies Flashcards
Clinical features of cleft lip/ palate
Often detected antenatally.
Cleft lip: unilateral or bilateral (pre maxilla is anteverted), failure of fusion of the frontonasal and maxillary processes.
Cleft palate: failure of fusion of palatine processes and the nasal septum
Common associations with cleft lip/ palate
- Polygenetic inheritance
- Chromosomal associations
- Maternal anticonvulsant therapy
Long term problems and feeding problems with cleft palate
- Cleft palate can make feeding more difficult.
- Breastfeeding usually okay.
- Bottle feeding: milk observed in the nose, choking and coughing.
- Treatment:
- specialised teats, feeding devices, orthodontic input/ dental prosthesis
- Psychological impact -repair of cleft lip first few weeks of life -repair of cleft palate first few months -scars
- Secretory otitis media
- Acute otitis media
Congenital diaphragmatic hernia and basic embryology
- Commonly posterolateral defects (80-90% left hand side)
- Usually diagnosed antenatally however if not, presentation =
- respiratory distress
- bad response to resuscitation
- poor air entry left hand side
- apex beat/ heart sounds displaced to right hand side
The diaphragm is derived from four embryonic structures: the septum transversum, the pleuroperitoneal membranes, mesoderm of the body wall, and esophageal mesenchyme.
The posterolateral diaphragmatic defect is postulated to result from _failure of closure of the pleuroperitoneal cana_ls. The canal remains open when the intestines return to the abdomen at 10 weeks’ gestation.
Basic management of congenital hernia
- diagnosis confirmed by CXR
- large NG tube passed and suction to prevent distension of the intrathoracic bowel
- repaired surgically
- pulmonary hypoplasia (prevention of development of lung due to herniated viscera throughout pregnancy)
- mortality is high
Different types of tracheo-oesophageal fistula
- oesophageal atresia is commonly associated with tracheo-oesophageal fistula - 86% atresia with fistula between distal oesophagus + trachea
- 8% atresia without fistula
- 4% H-type, without atresia
Management: continuous suction is applied to a tube into the oesophageal pouch to reduce aspiration of saliva and secretions pending transfer to neonatal surgical unit
Clinical features of gastrichisis
- usually diagnosed antenatally
- bowel protrudes through defect in anterior abdominal wall adjacent to umbilicus
- no covering sac
- no associations with congenital abnormalities
- greater risk of dehydration (wrap defect in several layers of cling film to reduce heat and fluid loss)
- NG tube aspirated frequently
- IV dextrose - colloid support to replace protein loss
- small: primary closure of the abdomen - large: silastic sac sutured to edges of abdominal wall and contents gradually returned to peritoneal cavity
Clinical features of exomphalos
- abdominal contents protrude through umbilical ring - covered in transparent sac (amniotic membrane and peritoneum)
- congenital anomalies associated:
- pentalogy of Cantrell- cleft sternum, anterior diaphragmatic hernia, heart defects (ventricular septal defect and ectopia cordis) and an absent pericardium
- Beckwith-Wiedemann syndrome- congenital overgrowth condition characterised by exomphalos, macroglossia and gigantism
- Genetic disorders. Trisomy 13, 18 and 21
- Cloacal extrophy- low exomphalos combined with bladder or cloacal extrophy
- Other: caudal anomalies, such as meningomyelocele, anal atresia and lower-limb anomalies. Dental malocclusion and musculoskeletal abnormalities
Patent vitello-intestinal duct
- permits an intermittent discharge of enteric contents from the umbilicus
- usually noticed in the first few days of life
- very rare
- associated with an umbilical polyp
- treated early with laparotomy or laparoscopy and excision of the duct to avoid intussusception or volvulus
Umbilical granuloma
- inflammatory process at the umbilicus
- becomes florid with excess granulation tissue preventing the raw area from developing new epithelial tissue
- usual process after the umbilical cord has been severed and tied is for the small remnant to shrivel and fall off
- The chronic inflammation at the line of demarcation is then quickly covered by epithelium
- Interruption of this is commonly because of infection
-
Presentation:
- __pouting umbilicus surmounted by a bright red, moist, friable, sometimes hemispherical mass of granulation tissue
Treatment: usually responds to silver nitrate cauterisation.
Bladder exstrophy
- failure of fusion of infraumbilical structures
- results in exposed bladder mucosa
Anorectal malformations (high and low) and associations
- anus and the rectum have not developed properly
- No anal opening at all
- An ectopic anus (small opening in the wrong place)
- Anal stenosis (narrowed opening of the bottom)
We usually classify them as “high” or “low” anomalies depending on the gap between the bowel and the skin. The bowel may be joined by a fistula (communicating tube) to another structure such as the urinary tract or the reproductive system.
Associations: kidneys, heart, spine and oesophagus (VATER syndrome)
Differential diagonsis of congenital neck cyst
branchial cleft cysts, thyroglossal duct cysts (TGDCs), ectopic thymus cysts, dermoid and teratoid cysts, cystic vascular abnormalities, and lymphatic malformations such as the cystic lymphangioma