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growth and development

Question 1

A mother and father bring their 6-month-old son to the clinic. On examination, he is symmetrically less than the 5th percentile for height, weight, and head circumference. He was born at 30 weeks gestation and weighed 1000 g. He was a planned pregnancy and his mother’s prenatal course was uneventful until she was in¬volved in an automobile accident that initiated the labor. The child was ventilated for 3 days in the neonatal intensive care unit, but otherwise did well without residual respiratory, central ner¬vous or intestinal problems. He was discharged at 8 weeks of life and has no other medical problems. This of the following is the mostly likely explanation for this child’s small size:
A. Chromosomal abnormality
B. Protein-calorie malnutrition
C. Normal preterm infant growth
D. Malabsorption secondary to short gut syndrome
E. Congenital hypothyroidism

Answer

C. The expected weight versus age must be modified with a preterm infant. Weight gain should be following or exceeding that of term infants. This infant’s parameters, when plotted in a “preterm growth chart,” are likely to reveal normal growth.

Question 2

A 13-month-old child is noted to be at the 25th percentile for weight, the 10th percentile for height, and less than the 5th per-centile for head circumference. The child was born at term. She was noted to have a small head at birth, to be developmentally delayed throughout her life, and to have required cataract surgery shortly after birth. She currently takes phenobarbital for seizures. Which of the following might explain this child’s small size?
A. Congenital cytomegalovirus infection
B. Down syndrome
C. Glycogen storage disease type II
D. Congenital hypothyroidism
E. Craniopharyngioma

Answer

A. The developmental delay, intrauterine growth retardation (in¬cluding microcephaly), cataracts, seizures, hepatosplenomegaly, prolonged neonatal jaundice, and purpura at birth are findings consistent with a congenital infection such as cytomegalovirus (CMV) or toxoplasmosis. Calcific densities in the brain with CMV typically are found in a periventricular pattern; in toxo¬plasmosis, they are found scattered throughout the cortex.

Question 3

A 4-month old child is noted to be having poor weight gain. The current growth parameters include weight less than 5th percentile, height about 10th percentile and head circumference at 50th per-centile. The planned pregnancy resulted in an uneventful sponta-neous, vaginal delivery. The mother and child were discharged af-ter a 48-hour hospitalization. Feeding is both breast and bottle, and the quantity seems to be sufficient. The child has had no ill-ness. Physical examination is unremarkable except for the child’s small size. On screening laboratory, you find the hemoglobin and hematocrit to be 11 mg/dL and 33%, respectively, with a platelet count of 198,000/mm3. The serum electrolytes include a sodium of 140, chloride of 105, potassium 3.5, bicarbonate of 17, blood urea nitrogen 15, and creatinine of 0.3. The liver function tests were normal. The urinalysis had a pH of 8 with occasional epithe¬lial cell, but no white blood cells, bacteria, protein, ketones, or reducing substances. The probable therapy for this child is:
A. Transfusion with packed red blood cells
B. Intravenous infusion of potassium chloride
C. Sweat chloride analysis
D. Growth hormone determination
E. Oral supplementation with bicarbonate

Answer

E. The patient described has evidence of renal tubular acidosis (probably distal tubular), a well-described cause of failure to thrive. Upon confirmation of the findings, oral supplementation of bicarbonate would be expected to correct the elevated chloride, the low bicarbonate and potassium (although potassium supplements may be required) and poor growth.

Question 4

A 5-year-old girl is noted to be somewhat short for age and have mild bowing of her legs. Her past medical history is signif¬icant only for a seizure disorder that is adequately controlled with medications. Screening serum calcium, phosphorus, and alkaline phosphatase levels and the urinary amino acid concentration are normal. A bone age of her left wrist is notable for abnormal min-eralization of the distal radius and ulna. Of the following, which is most likely?
A. Genetic first-degree hypophosphatemia
B. Schmid metaphyseal dysplasia
C. Cystic fibrosis
D. Rickets associated with anticonvulsive drug use
E. Fanconi syndrome

Answer

B. All of the rickets syndromes present with elevated alkaline phosphatase levels. Schmid metaphyseal dysplasia is an autosomal dominant condition that presents in a similar way with short stature, bowing of legs, and waddling gait. Radiographs show ir¬regular mineralization of the long bones. Biochemically, patients with Schmid-type metaphyseal dysostosis present with normal serum calcium, phosphorus, and alkaline phosphatase activity as well as with normal levels of urinary amino acids.

Question 5

During a “well-child” visit, the parents of an apparently healthy 5-month-old offer a great amount of information. Which of the following bits of information is of most concern?
A. Intermittent tugging on the ears
B. A diet that includes baby cereal, 5 different baby vegetables, and 1 baby fruit
C. Consuming 32 ounces of infant formula per day
D. Rolling from front to back but not back to front
E. Limited eye contact with parents

Answer

E. Almost from the time of birth, children fix and follow on the human face. A 5-month-old child who does not engage eye con¬tact with his or her parents is clearly abnormal.

Question 6

A 16-year-old boy complains that he is the shortest boy in his class. He has a normal past medical history, and although he was always a bit small for age, he has really noticed that he has fallen behind his peers in the last 2 years. He is Tanner stage 3 and is at the 5th percentile for height. His father reports that he began puberty at age 16 and completed his growth in college at age 19; he is now 179 cm tall. His mother began her pu¬bertal development at age 10 and had her first menstrual period at age 13; her height is 163 cm. Of the following, the sin¬gle most appropriate intervention is:
A. Measurement of bone age
B. Measurement of IGF-1
C. Liver function studies
D. Pediatric endocrinology referral
E. Chromosomal analysis

Answer

A. This boy likely has constitutional growth delay, similar to that experienced by his father. Bone age would be delayed, indi­cating much potential growth. This child will eventually enter puberty, but the psychosocial ramifications of remaining shorter and more immature-appearing than his peers may warrant treatment. Monthly injections of testosterone over several months jump starts the pubertal process without altering final growth potential. Ultimately, a pediatric endocrinologist might be required to assist in the dosing should testosterone injections be chosen.

Question 7

A 17-year-old girl is 148 cm tall while her parents are of normal height. Her past medical history is significant for life¬long short stature and cardiac surgery when she was 1 year old. She has never had a menstrual period. The most appropriate ac¬tion would be to order:
A. Serum testosterone levels
B. Ultrasonogram of the abdomen
C. Thyroid function studies
D. Referral to a pediatric endocrinologist
E. Chromosomal analysis

Answer

E. Chromosomal analysis is likely to demonstrate Turner syn¬drome in this patient. The heart defect that required surgery might have been a coarctation of the aorta. Common features of Turner syndrome include female phenotype, short stature, sexual infantilism, streak gonads, broad chest, low hairline, webbed neck, congenital lymphedema of the hands and feet, and a vari¬ety of other anomalies. Some children with Turner syndrome benefit from growth hormone therapy.

Question 8

A mother brings in her 13-year-old daughter who is “falling be-hind” in growth and who has not yet exhibited pubertal changes. Physical examination reveals a height less than the 5th per¬centile on standardized growth charts, no signs of secondary sexual characteristics, a small mandible, low posterior hairline, prominent ears, and a broad chest. The next step in the care of this child is:
A. Treat with a short courseof growth hormone injections.
B. Bone age radiograph.
C. Chromosome analysis.
D. Ultrasonography of abdomen.
E. Reassurance to the family and recommendation to return in 6 months for remeasurement of height.

Answer

C. This child has Turner syndrome (45,X). Other features include webbed neck, high-arched palate, increased nevi, renal anomalies, an increased arm-carrying angle, and edema of hands and feet. Treatment includes recombinant human growth hormone and replacement therapy with estrogens.

Question 9

Which of the following would be the expected language devel-opment of a normal 24-month-old child?
A. The child’s speech is 90% understandable.
B. The child has a 10-word vocabulary and does not combine words.
C. The child has a 50-word vocabulary and combines 2 words to make a sentence.
D. The child uses pronouns appropriately.
E. The child has a 200-word vocabulary and combines 4 to 5 words to make a sentence.

Answer

C. At the age of 24 months, the average child will have a vo¬cabulary of about 50 words and be able to put 2 words together to form a sentence. Expected language development for a 12¬-month-old child includes a vocabulary of 2 to 4 words in addi¬tion to appropriately saying “mama” and “dada.” By 36 months, a child should have a vocabulary of 250 words, produce at least 3-word sentences, and be able to use pronouns.

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