Physical and Developmental Disorders (Skeletal - GI System)

Polydactyly

Presence of one or more additional fingers or toes

Syndactyly

Two fingers or toes are fused, usually caused by a simple webbing

Pectus excavatum

Most common congenital deformity of anterior chest; indentation of lower portion of sternum

1 out of 500 live births

What is the incidence of Pectus excavatum?

Pectus carinatum

Sternum is displaced anteriorly; increase of anteroposterior diameter of chest

Torticollis

Wry neck; occurs in newborns with wide shoulders when pressure is exerted on the head to deliver the shoulder either with a vaginal or cesarean birth

Craniosynostosis

Premature closure of skull sutures. Dominantly inherited trait, more boys than girls

Sagittal suture line

In craniosynostosis, it is the line that closes prematurely which causes the child's head tends to grow anteriorly and posteriorly

careful observation

In craniosynostosis, what is the treatment when the sagittal suture line is closed prematurely?

Coronal suture line

In craniosynostosis, when this line fuses early, the eye orbits misshapen & increased intracranial pressure lead to eye disorders

surgically opened to prevent brain compression and an abnormally shaped head by 9 to 12 months

In craniosynostosis, what is the treatment when the coronal suture line fuses early?

Chondrodystrophia

Achondroplasia is also known as?

Achondroplasia

It is the failure of bone growth inherited as a dominant trait, which causes a disorder in cartilage production in utero. Head continues to grow normally, causing children's heads to appear unusually large in contrast to their extremities

Talipes

Clubfoot; ankle-foot disorders in which there is bone deformity & foot malposition with soft tissue contracture

1 in every 1000 children

What is the incidence of talipes?

Talipes equinovarus

A type of talipes disorder in which there is plantar flexion or the forefoot is lower than heel

Dorsiflexion

A type of talipes disorder in which the heel is held lower than the forefoot or anterior foot is flexed toward anterior leg

Varus deviation

A type of talipes disorder in which the foot turns in

Valgus deviation

A type of talipes disorder in which the foot turns out

The newborn feet is straightened to midline

How is talipes detected?

Ponseti method

A treatment for talipes in which series of casts or braces are applied gradually to mold foot into good alignment

knee

Cast or brace extends above the _____ to ensure a firm correction

Congenital Hip Dysplasia

DDH; it is a spectrum of abnormalities affecting hip joint. It is the common musculoskeletal condition in newborns

Ortolani & Barlow Maneuver

What is the maneuver/s used to assist in detecting developmental dysplasia of the hip

Mild DDH

Type of DDH in which it requires close monitoring, since 60% - 80% of clinically identified abnormalities & 90% of ultrasonographic abnormalities spontaneously resolve without treatment in early infancy.

Severe DDH

Type of DDH in which it adversely affect normal hip growth and development and may cause issues into adulthood

6 months old

Babies less than _____ with DDH are treated using flexion-abduction splinting devices

Pavlik harness

It has a high success rate for subluxation & reducible DDH

Spica Cast, Frog-Leg, A-line Cast

Cast used for 6-8 month old babies, it places stat for infant with fully dislocated hip/severe subluxation to maintain externally rotated hip position

Ankyloglossia

Tongue-tie; tight and shortened lingual frenulum which causes restricted tongue mobility & impaired tongue function

Thyroglossal Cysts

An autosomal dominant trait; irregular neck mass or a lump which develops from cells & tissues left over after formation of thyroid gland during developmental stages

hyoid bone

Thyroglossal cysts may involve what bone?

Cleft lip

It is the most common type of orofacial cleft. Disorder in which fusion fails to occur in varying degrees, causing this disorder to range from a small notch in upper lip to total separation of lip & facial structures up into the floor of nose, with upper teeth & gingiva absent

Folic acid deficiency

In cleft lip, it is associated with incomplete anterior midline closures

Cleft palate

Disorder in which opening of the palate occurs when palatal process does not close as usual at approximately 9-12 weeks of intrauterine life

1 in every 1,000 births

What is the incidence of cleft palate?

2-12

If discovered at birth, a cleft lip can be repaired surgically shortly thereafter, often at time of initial hospital stay or between how many weeks old?

The Pierre Robin Sequence (Syndrome)

It is a rare triad of diseases that can result in severe upper airway obstruction & may cause secondary respiratory distress due to upper airway obstruction

1 in every 8,500 to 1 in every 20,000 births

What is the incidence of Pierre Robin Sequence?

Monitor infants for possible airway obstruction

What is the therapeutic management for infants with Pierre Robin Sequence?

side-lying

This position is recommended rather than a supine sleeping position is recommended for all newborns and infants with Pierre Robin Sequence to avoid obstruction

Esophageal lumen

Between 4-8 weeks intrauterine life, the laryngotracheal groove in the chest develops into the larynx, trachea, and beginning lung tissue; what structure forms parallel to this?

Esophageal atresia

It is the incomplete formation of esophageal lumen resulting in proximal (upper) esophagus forming a "blind pouch" not connected to other structures

Tracheoesophageal fistula

It occurs when the opening develops between closed distal (lower) esophagus & trachea

hydramnios

Esophageal atresia is ruled out in any infant born to a woman with?

Flat-plate X-ray of the abdomen or an ultrasound

What assessment tool/s is used to reveal a stomach distended with the air that has passed from the trachea into the esophagus and stomach, demonstrating that a fistula is present

Barium swallow or a bronchial endoscopy examination

What assessment tool/s is used that can also reveal the blind-end esophagus and fistula

Umbilical hernia

It is the protrusion of a portion of intestine through umbilical ring, muscle, and fascia surrounding umbilical cord

2

For infants with a fascial ring larger than ____ cm, ambulatory surgery repair is generally indicated to prevent herniation and intestinal obstruction or bowel strangulation

4-5

If small umbilical hernia has not closed by preschool age, a repair will often be done when the child is how many years old?

Omphalocele

It is a protrusion (herniation) of abdominal contents through abdominal wall at the point of junction of umbilical cord & abdomen

Gastroschisis

It is similar to omphalocele, except abdominal wall disorder is a distance from umbilicus, usually to the right, abdominal organs not contained by a membrane- rather spill freely from abdominal wall.

4-5 per 1,000 births

What is the incidence of gastroschisis?

Prosthetic patch repair

It is the first surgical approach to large gastroschisis where a unformed gap is bridged on the abdomen with a synthetic material.

Silastic pouch

In the second surgical approach to large gastroschisis, only a portion of the bowel is replaced at one time. The remainder is contained by a?

Meconium plug syndrome

Disorder in which a extremely hard portion of meconium completely blocks the intestinal lumen, causing bowel obstruction

Gastrografin

It is a highly osmotic radiographic substance, an enema used for the therapeutic management of meconium plug syndrome

Meconium ileus

It is the obstruction of intestinal lumen by hardened meconium. It occurs almost exclusively in infants with cystic fibrosis

Diaphragmatic hernia

Musculature weakness that permits a portion of abdominal organs, such as stomach or intestine, to protrude through the chest wall

1 to 5 per 10,000 births

What is the incidence of diaphragmatic hernia?

Insoluble polymer (Teflon)

If disorder of the diaphragm is large, this may be used to reconstruct a better diaphragm shape

Imperforate anus

A stricture or the absence of the anus

duodenum

What is the common site of intestinal obstructions?

1-2 cm

What is the structure of a umbilical hernia?

breech birth, girls and primigravida mother

Congenital Hip Dysplasia (DDH) occurs in?

brace and splints

They are utilized for treatment of unstable hip & patient-family preferences should have a substantial influence on which type is chosen

Frenotomy release

In ankyloglossia, what release can be performed in the newborn period?

micrognathia (small mandible), cleft palate, and glossoptosis (a tongue malpositioned downward)

What are the triad of diseases found in the Pierre Robin Sequence?

upright, 60-degree angle

What is the best position for infants with an esophageal atresia or tracheoesophageal fistula?

clicking or clunking sound

What is an indicator for a positive Ortolani sign?

feeling of the femur head slipping out of the socket posterolaterally

What is an indicator for a positive Barlow sign?

elevated MAFP

Gastroschisis is revealed by what examination during pregnancy?

prenatal sonogram

It is used to determine the presence of both abdominal wall or spinal disorders

acetylcysteine (Mucomyst)

Instillation of this medication may be prescribed to soften stool in meconium plug syndrome

wink reflex

This reflex cannot be elicited in an imperforate anus