A 2-year-old male is brought in for an initial office visit. He just moved to your community to live with foster parents. On examination, you note a thin upper lip, a smooth philtrum, a flat nasal bridge, small palpebral fissures, “railroad tract” ears, a curved fifth finger (clinodactyly), and a widened upper palmar crease that ends between the second and third fingers.
These findings suggest which one of the following?
Correct Answer D:
The child described has the characteristic facial features of fetal alcohol syndrome. Fetal alcohol spectrum disorders (FASD) are caused by the effects of maternal alcohol consumption during pregnancy. Fetal alcohol syndrome is the most clinically recognized form of FASD and is characterized by a pattern of minor facial anomalies, including a thin upper lip, a smooth philtrum, and a flat nasal bridge; other physical anomalies, such as clinodactyly; prenatal and postnatal growth retardation; and functional or structural central nervous system abnormalities.
Children with Down syndrome have hypotonia, a flat face, upward and slanted palpebral fissures and epicanthic folds, and speckled irises (Brushfield spots); varying degrees of mental and growth retardation; dysplasia of the pelvis; cardiac malformations; a simian crease; short, broad hands; hypoplasia of the middle phalanx of the 5th finger; and a high, arched palate.
Marfan syndrome is characterized by pectus carinatum or pectus excavatum, an arm span to height ratio >1.05, a positive wrist and thumb sigh, limited elbow extension, pes planus, and aortic ascendens dilation with or without aortic regurgitation.
The bilateral renal agenesis seen with Potter’s syndrome is incompatible with extrauterine life. Other anomalies include widely separated eyes with epicanthic folds, low-set ears, a broad and flat nose, a receding chin, and limb anomalies.
Finally, Prader-Willi syndrome is characterized by severe hypotonia at birth, obesity, short stature (responsive to growth hormone), small hands and feet, hypogonadism, and mental retardation.
A mother calls your office regarding her 14-month-old son who has fallen against a door and completely avulsed a lower front tooth. The child is otherwise healthy. There is no dentist available for consultation.
Which one of the following would be the most appropriate advice?
Dental injuries are very common in childhood. If a primary tooth is completely avulsed, it should NOT be reimplanted, as this may cause injury to the developing tooth bud. The tooth should be examined to make sure that the entire root and crown are present. Radiographs may be needed if there is concern that the tooth was aspirated, swallowed, or impacted against the alveolus. If the physician is concerned that an injured, but incompletely avulsed, tooth may be aspirated, he or she can remove the tooth if a dentist is not immediately available. This is of particular concern if a child is still bottle fed.
Patients with Alport’s syndrome are likely to:
Correct Answer C:
Alport’s syndrome is usually inherited as an X-linked trait. It is characterized by sensorineural deafness in the majority of cases. Hematuria, proteinuria, and progressive renal failure are also associated with this disorder. There is no effect on fertility rates or atherosclerosis.
A 16-year-old high-school cross-country runner presents with bilateral leg pain for the past several weeks. She complains of tightness and swelling of the anterior lateral aspect of both legs. The pain occurs with running and lasts 30 minutes after completion of a run. She is in the middle of the season and does not wish to quit or decrease her activity level.
A physical examination is negative except for mild tenderness over the affected area. Palpation of the posterior medial aspect of the tibia is negative and there is no point tenderness along the anterior or posterior medial tibia.
Which one of the following is most likely to confirm the diagnosis?
Correct Answer E:
Chronic compartment syndrome is becoming more frequently recognized. It tends to affect young athletes, particularly girls, and is more common in runners and soccer players. The most common compartments involved are the anterior and deep posterior compartments. Symptoms appear to be due to the increase in blood volume and edema which occurs with exercise, increasing muscle mass by up to 20%. The resulting elevated pressure within the compartment leads to diminished capillary flow and tissue ischemia, causing pain which is not usually severe.
The pain tends to recur at a specific distance and usually resolves within minutes to hours after stopping the activity. Physical examination may reveal tenderness over the involved compartment, but is often negative. The examination does help rule out other entities such as shin splints, stress fracture, claudication, disc herniation, popliteal artery entrapment, peroneal nerve entrapment, and gastrocnemius strain. The diagnosis is confirmed by measuring the pressure in the involved compartment.
A 6-year-old male is brought to your office with abdominal pain of 6 months’ duration. He has a history of constipation, with passage of hard, large-caliber stools approximately once a week. Encopresis also is a problem, with accidental passage of loose stool. His general examination is negative, but he and his mother refuse to allow a digital rectal examination. He does have a normal anal wink and cremasteric reflex.
Which one of the following tests would be most appropriate at this time?
Correct Answer D: A child passing infrequent, large-caliber stools, often with fecal soiling, suggests functional constipation. Encopresis often results from passage of loose stool around hardened stool in the rectal vault. A physical examination will sometimes reveal palpable stool in the left lower quadrant. If possible, a digital rectal examination should be done. If this isn’t possible, a plain-film abdominal radiograph will likely reveal a fecal impaction.
Constipation in children older than 1 year of age is functional in more than 95% of cases. However, causes of organic constipation include Hirschsprung’s disease, hypothyroidism, hypercalcemia, hypokalemia, diabetes mellitus, diabetes insipidus, cystic fibrosis, gluten enteropathy, spinal cord lesions, neurofibromatosis, heavy metal poisoning, medication side effects, developmental delay, and sexual abuse.
→ A CT scan (choice A) and a barium enema (choice C) are not as helpful.
→ Rectal biopsy (choice B) is the definitive means of establishing or excluding Hirschsprung disease. This procedure is to invasive for this patient's clinical picture and would not be part of initial management
→ Functional constipation can be managed without colonoscopy (choice E).
Click to expand