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 1 1 Previous Next Lab Values Blood Hematologic Cerebrospinal Sweat, Urine, and BMI Blood, Plasma, Serum Reference Range ALT 8-20 U/L Amylase, serum 25-125 U/L AST 8-20 U/L Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL Calcium, serum (Ca2+) 8.4-10.2 mg/dL Cholesterol, serum Rec: < 200 mg/dL Cortisol, serum 0800 h: 5-23 μg/dL //1600 h: 3-15 μg/dL 2000 h: ≤ 50% of 0800 h Creatine kinase, serum Male: 25-90 U/LFemale: 10-70 U/L Creatinine, serum 0.6-1.2 mg/dL Electrolytes, serum Sodium (Na+) 136-145 mEq/L Chloride (Cl-) 95-105 mEq/L Potassium (K+) 3.5-5.0 mEq/L Bicarbonate (HCO3-) 22-28 mEq/L Magnesium (Mg2+) 1.5-2.0 mEq/L Estriol, total, serum (in pregnancy) 24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL 28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL Ferritin, serum Male: 15-200 ng/mLFemale: 12-150 ng/mL Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL Female: premenopause: 4-30 mIU/mL midcycle peak: 10-90 mIU/mL postmenopause: 40-250 pH 7.35-7.45 PCO2 33-45 mmHg PO2 75-105 mmHg Glucose, serum Fasting: 70-110 mg/dL2-h postprandial:<120 mg/dL Growth hormone - arginine stimulation Fasting: <5 ng/mLProvocative stimuli: > 7ng/mL Immunoglobulins, serum IgA 76-390 mg/dL IgE 0-380 IU/mL IgG 650-1500 mg/dL IgM 40-345 mg/dL Iron 50-170 μg/dL Lactate dehydrogenase, serum 45-90 U/L Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL Female: follicular phase: 5-30 mIU/mL midcycle: 75-150 mIU/mL postmenopause 30-200 mIU/mL Osmolality, serum 275-295 mOsmol/kd H2O Parathyroid hormone, serume, N-terminal 230-630 pg/mL Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L Phosphorus (inorganic), serum 3.0-4.5 mg/dL Prolactin, serum (hPRL) < 20 ng/mL Proteins, serum Total (recumbent) 6.0-7.8 g/dL Albumin 3.5-5.5 g/dL Globulin 2.3-3.5 g/dL Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h Thyroxine (T4), serum 5-12 μg/dL Triglycerides, serum 35-160 mg/dL Triiodothyronine (T3), serum (RIA) 115-190 ng/dL Triiodothyronine (T3) resin uptake 25%-35% Urea nitrogen, serum 7-18 mg/dL Uric acid, serum 3.0-8.2 mg/dL Hematologic Reference Range Bleeding time 2-7 minutes Erythrocyte count Male: 4.3-5.9 million/mm3Female: 3.5-5.5 million mm3 Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/hFemale: 0-20 mm/h Hematocrit Male: 41%-53%Female: 36%-46% Hemoglobin A1c ≤ 6 % Hemoglobin, blood Male: 13.5-17.5 g/dLFemale: 12.0-16.0 g/dL Hemoglobin, plasma 1-4 mg/dL Leukocyte count and differential Leukocyte count 4,500-11,000/mm3 Segmented neutrophils 54%-62% Bands 3%-5% Eosinophils 1%-3% Basophils 0%-0.75% Lymphocytes 25%-33% Monocytes 3%-7% Mean corpuscular hemoglobin 25.4-34.6 pg/cell Mean corpuscular hemoglobin concentration 31%-36% Hb/cell Mean corpuscular volume 80-100 μm3 Partial thromboplastin time (activated) 25-40 seconds Platelet count 150,000-400,000/mm3 Prothrombin time 11-15 seconds Reticulocyte count 0.5%-1.5% of red cells Thrombin time < 2 seconds deviation from control Volume Plasma Male: 25-43 mL/kgFemale: 28-45 mL/kg Red cell Male: 20-36 mL/kgFemale: 19-31 mL/kg Cerebrospinal Fluid Reference Range Cell count 0-5/mm3 Chloride 118-132 mEq/L Gamma globulin 3%-12% total proteins Glucose 40-70 mg/dL Pressure 70-180 mm H2O Proteins, total < 40 mg/dL Sweat Reference Range Chloride 0-35 mmol/L Urine Calcium 100-300 mg/24 h Chloride Varies with intake Creatinine clearance Male: 97-137 mL/minFemale: 88-128 mL/min Estriol, total (in pregnancy) 30 wks 6-18 mg/24 h 35 wks 9-28 mg/24 h 40 wks 13-42 mg/24 h 17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 hFemale: 2.0-8.0 mg/24 h 17-Ketosteroids, total Male: 8-20 mg/24 hFemale: 6-15 mg/24 h Osmolality 50-1400 mOsmol/kg H2O Oxalate 8-40 μg/mL Potassium Varies with diet Proteins, total < 150 mg/24 h Sodium Varies with diet Uric acid Varies with diet Body Mass Index (BMI) Adult: 19-25 kg/m2 Calculator ( ) xy AC 7 8 9 ÷ 4 5 6 × 1 2 3 - 0 . = + (M1.EB.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? Review Topic QID: 101925 FIGURES: A 1 Failure of palatine shelves to fuse with each other 8% (5/60) 2 Failure of maxillary prominences to fuse with the medial nasal process 62% (37/60) 3 Failure of maxillary prominences to fuse with the lateral nasal process 17% (10/60) 4 Failure of palatine shelves to fuse with the medial nasal process 3% (2/60) 5 Failure of palatine shelves to fuse with the lateral nasal process 7% (4/60) M1 Select Answer to see Preferred Response PREFERRED RESPONSE 2