Congenital anomalies examples:

 We Will review some of the most common congenital anomalies examples in brevity:

*Cleft lip /palate:

most common head and neck anomalies.

leads to recurrent chest and ear infections.

must engorgement breastfeeding (may need breastfeeding consultant to prevent aspiration)

surgical closure before phonation to prevent hypernasality.

* Choanal atresia:

Congenital blockage of the posterior nares due to the persistence of the bony septum in 90% of cases or soft tissue septum in 10% of cases.

Inability to pass catheter in the resuscitation room.

Respiratory distress due to upper airway obstruction.

Must use oral airway if bilateral closure detected until a surgical correction occurs.

*Tracheal-esophageal fistula (TOF):

It May happen isolated or with VATER syndrome.

Esophageal atresia with distal TOF occurs in 85%

Suspected in polyhydramnios.

A lot of secretions with cough and choking with feeding.

Failure to pass the nasogastric tube beyond the proximal esophagus.

Do an X-ray to diagnose.

Position the patient in 30 degrees upright position.

Suction posterior pharyngeal and upper airway.

Supplementary Oxygen.

Surgical correction.

*Diaphragmatic Hernia:

Associated with polyhydramnios.

Respiratory distress at birth, Cyanosis, Scaphoid abdomen, Hearing bowel sounds in the chest cavity, difficulty feeding, and low birth sounds with hemithorax detected usually on the left side.

Prenatal diagnosis by ultrasound.

X-ray detects loops of intestines in the chest.

Ventilation by bag and mask is contraindicated to prevent lung compression and cyanosis.

Surgical repair must occur as soon as possible.

* Omphalocele:

  Herniation of loops of the intestines and /or the liver inside the umbilical cord.

  Surgical repair must occur.



* Gastroschisis:

A defect in the abdominal wall leads to herniation of the bowl.

Surgical correction must occur.

* Meningomyelocele:

Cystic dilatation of meninges associated with spina bifida with or without defect in overlying skin and abnormalities of nerve roots.

Varying degrees of motor and sensory deficits below the level of the lesion.

Examination of the skull is important to exclude hydrocephalus (head circumference).

Do surgical closure.

* Spina Bifida Occulta :

Hair tuft & lipoma or dimple overlying spinal cord defect.

*Congenital dislocation of the hip :

Developmental hip dysplasia.

Detected in females more than males.

Commen with breach position.

Early diagnosis with U/S and treatment prevent permanent disability.

Apply the Ortolani maneuver (the examiner's hands are placed over the baby's knees with thumbs located a gentle upward stress on the lateral thigh and greater trochanter area).




*Hypospadias:

Most common urological anomaly.

May associate with undescended testis and hernias.

Good prognosis with surgical repair.

* Imperforate anus:

It may be low or high in position.

May pass meconium via the vagina & scrotum or with urine when associated with fistula.

X-ray erect upside down with metal coin and U/S to diagnose.

Surgical correction.



what do you know about congenital anomalies?

 


AaseJM.Diagnostic Dysmorphology.New York, NY:Plenum;1990.
Bishara N, Clericuzio C. Common dysmorphic syndromes in the NICU. NeoReviews.2008;9:e29-e38.




































Comments

Popular posts from this blog

Neonatal examination

Post-term and low birth weight: