Snapshot A 35-year-old mother brings her 1-week-old female infant to your clinic for difficulty with breastfeeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home. She notes that her infant has difficulty latching onto her nipple and she occasionally sees breast milk coming out of the infant’s nose. On examination, you note that there are no obvious facial deformities, however, inspection of the oral cavity reveals a defect in the hard palate and visualization into the nasal cavity. You then decide to refer the patient to a craniofacial clinic. Introduction Etiology causes are multifactorial Genetics concordance rate for monozygotic twins is approximately 40-60% suggests that genetics does not act alone Epidemiology incidence predominant congenital anomaly of the head and neck cleft lip occurs in 1 in 1,000 occurs more often in males cleft palate occurs in 1 in 2,000 occurs more often in females of the known 200 syndromes associated with cleft lip and palate, van der Woude syndrome is the most common due to mutations on chromosome 1 characterized by facial deformities, most commonly lip pits risk factors alcohol tobacco phenytoin retinoic acid Studies Prenatal ultrasound can diagnose facial deformities as early as 18 weeks accuracy improves with gestational age upon diagnosis infant and family are immediately referred to a craniofacial center for management Following diagnosis, infant is screened for any other congenital abnormalities Treatment Primary treatment is surgical correction Children with cleft palate often have difficulty sucking due to air leakage between the nose and mouth breast-feeding is often ineffective and specialized bottles with positional techniques are available to ensure adequate intake surgery for cleft lip is usually performed around 3 months of age surgery for cleft palate is usually performed around 1 year of age, when speech is beginning to develop orthodontic devices may be used to decrease size of cleft lip prior to definitive repair Referral to a craniofacial clinic is necessary and comprises multiple specialists that include otolaryngology plastic surgery oral maxillofacial surgery dentistry genetic counseling speech-language pathology and audiology Cleft Lip Pathophysiology maxillary and medial nasal prominences fail to fuse together resulting in the characteristic persistent labial groove (cleft lip) complete vs. incomplete cleft lip bilateral vs. unilateral Cleft Palate Pathophysiology can be divided into anterior and posterior cleft palate demarcating line is incisive foramen anterior cleft palate failure of fusion of palatine shelves with primary plate posterior cleft palate failure of fusion of the palatine shelves together and with the nasal septum anteroposterior cleft palate combination of the above two defects Note cleft lip and cleft palate have separate embryological causes but many times occur together
QUESTIONS 1 of 3 1 2 3 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.EB.15.31) A fourth-year medical student travels to Asia to participate in a medical mission. On the first day, she sees a mother and her two-year-old child (Figure A). The mother states that as an infant, the child was slow to gain weight, but was otherwise healthy and her pregnancy was uncomplicated. The child is now learning to speak, but is having difficulty. What is the embryologic etiology of the craniofacial abnormality seen? Tested Concept QID: 101925 FIGURES: A Type & Select Correct Answer 1 Failure of palatine shelves to fuse with each other 10% (7/72) 2 Failure of maxillary prominences to fuse with the medial nasal process 57% (41/72) 3 Failure of maxillary prominences to fuse with the lateral nasal process 15% (11/72) 4 Failure of palatine shelves to fuse with the medial nasal process 10% (7/72) 5 Failure of palatine shelves to fuse with the lateral nasal process 6% (4/72) M 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review tested concept