Growth and Development Practice Questions

Q: All of the following are true about Down syndrome except:

Hypoplasia of the middle phalanx of the 1st finger. **Explanation:** Down syndrome (Trisomy 21) is the most common chromosomal disorder and presents with a distinct constellation of clinical features. **Why Option D is the Correct Answer:** The statement is incorrect because the characteristic skeletal finding in Down syndrome is **hypoplasia of the middle phalanx of the 5th finger** (the little finger), not the 1st finger (the thumb). This hypoplasia leads to **clinodactyly**, which is the permanent inward curvature of the fifth finger toward the fourth. **Analysis of Incorrect Options:** * **Option A (Duodenal Atresia):** This is a classic gastrointestinal association. Approximately 30% of infants with duodenal atresia have Down syndrome. It presents radiographically as the "double bubble" sign. * **Option B (Trisomy 21):** This is the fundamental genetic cause of Down syndrome, occurring due to meiotic non-disjunction in 95% of cases. * **Option C (Simian Crease):** Also known as a single transverse palmar crease, this is a hallmark physical finding present in about 45-50% of affected individuals. **High-Yield Clinical Pearls for NEET-PG:** * **Cardiac:** The most common defect is an **Atrioventricular Septal Defect (AVSD)** / Endocardial Cushion Defect. * **Neurological:** Increased risk of early-onset Alzheimer’s disease and atlantoaxial instability. * **Hematological:** Increased risk of **AMKL** (Acute Megakaryoblastic Leukemia) before age 3 and **ALL** (Acute Lymphoblastic Leukemia) after age 3. * **Screening:** Low AFP, low unconjugated estriol (uE3), and high hCG/Inhibin-A on the quadruple screen are suggestive of Down syndrome.

Q: What developmental milestone is typically achieved by a 3-month-old baby?

Head control. **Explanation:** Developmental milestones follow a predictable **cephalocaudal** (head-to-toe) and **proximodistal** (center-to-periphery) pattern. **Correct Answer: B. Head control** By 3 months of age, a baby typically achieves significant head control. When held in a sitting position, the head is held erect and steady. In a prone position, the infant can lift their head and chest off the surface, supporting themselves on their forearms. This is a foundational gross motor milestone that precedes sitting and standing. **Analysis of Incorrect Options:** * **A. Pincer grasp:** This is a fine motor milestone achieved much later, typically between **9 to 10 months**. It involves using the thumb and index finger to pick up small objects. * **C. Sitting with support:** While a 3-month-old has head control, they generally do not sit with support until **5 to 6 months**. Sitting *without* support is usually achieved by 8 months. * **D. Transferring objects:** This fine motor milestone involves moving an object from one hand to the other, which typically occurs at **6 months** (along with the disappearance of the palmar grasp reflex). **High-Yield Clinical Pearls for NEET-PG:** * **Social Smile:** Appears at **2 months** (the first social milestone). * **Disappearance of Primitive Reflexes:** Most primitive reflexes (Moro, Rooting, Palmar grasp) disappear by **3–4 months** as cortical inhibition increases. * **Red Flag:** Failure to achieve head control by **4 months** warrants immediate developmental evaluation for cerebral palsy or neuromuscular disorders.

Q: Paternal 15 chromosome deletion is seen in which condition?

Prader Willi syndrome. ### Explanation The correct answer is **Prader-Willi Syndrome (PWS)**. This question tests the concept of **Genomic Imprinting**, where the expression of a gene depends on whether it is inherited from the mother or the father. **1. Why Prader-Willi Syndrome is correct:** PWS occurs due to the loss of function of genes in the **paternal** copy of chromosome **15q11-q13**. Under normal conditions, the maternal genes in this region are "silenced" (imprinted). If the paternal segment is deleted (70% of cases) or if there is Maternal Uniparental Disomy (inheritance of two maternal copies), no active genes remain in this region. * **Clinical Features:** Infantile hypotonia, feeding difficulties followed by hyperphagia and obesity, hypogonadism, and small hands/feet. **2. Why other options are incorrect:** * **Angelman Syndrome:** This involves the **maternal** deletion of the same region (15q11-q13). It presents with the "Happy Puppet" profile: inappropriate laughter, ataxia, and severe intellectual disability. * **Down Syndrome:** Caused by **Trisomy 21** (an extra chromosome 21), not a deletion. * **Turner Syndrome:** Caused by **Monosomy X (45, XO)**, involving the loss of an entire sex chromosome in females. **3. NEET-PG High-Yield Pearls:** * **Mnemonic:** **P**aternal deletion = **P**rader-Willi; **M**aternal deletion = **A**ngelman (**M**ama's **A**ngel). * **Diagnosis:** The gold standard screening test is **DNA Methylation analysis**, which detects abnormal imprinting. * **Uniparental Disomy (UPD):** Remember that *Maternal* UPD causes Prader-Willi, while *Paternal* UPD causes Angelman.

Q: A male child presented with cryptorchidism, mental retardation, and pulmonary stenosis. He has a normal karyotype. Which of the following is the diagnosis?

Noonan's syndrome. **Explanation:** The clinical presentation of **pulmonary stenosis**, **cryptorchidism**, and **intellectual disability** in a male child with a **normal karyotype** is a classic description of **Noonan’s Syndrome**. 1. **Why Noonan’s Syndrome is correct:** Often referred to as the "Male Turner Syndrome," Noonan’s syndrome is an autosomal dominant disorder (most commonly due to mutations in the *PTPN11* gene). While it shares phenotypic features with Turner syndrome (webbed neck, short stature, low-set ears, and cubitus valgus), it occurs in both males and females. Crucially, the karyotype is normal (46, XY or 46, XX). The most common cardiac lesion is **Pulmonary Valve Stenosis** (dysplastic valve), followed by Hypertrophic Cardiomyopathy (HCM). 2. **Why other options are incorrect:** * **Turner’s Syndrome (45, X):** Occurs only in females. The most common cardiac defects are **Bicuspid Aortic Valve** and **Coarctation of the Aorta**. * **Down’s Syndrome (Trisomy 21):** Characterized by distinct facies (up-slanting palpebral fissures, Simian crease). The most common cardiac defect is an **Atrioventricular Septal Defect (AVSD)**. * **Angelman’s Syndrome:** A neurodevelopmental disorder (deletion on maternal chromosome 15) characterized by "happy puppet" behavior, seizures, and severe intellectual disability, but it is not typically associated with pulmonary stenosis or cryptorchidism. **High-Yield Clinical Pearls for NEET-PG:** * **Noonan Syndrome:** Pulmonary Stenosis + Normal Karyotype + PTPN11 mutation. * **Turner Syndrome:** Coarctation of Aorta + 45, X Karyotype. * **Williams Syndrome:** Supravalvular Aortic Stenosis + "Elfin" facies + Hypercalcemia. * **Alagille Syndrome:** Peripheral Pulmonary Artery Stenosis + Bile duct paucity (jaundice) + Butterfly vertebrae.

Q: A child can draw a triangle but not a diamond shape at what age?

5 years. **Explanation:** The development of fine motor skills follows a predictable chronological sequence, specifically regarding the ability to copy geometric shapes. This progression reflects the maturation of the child’s hand-eye coordination and cognitive processing. * **Why 5 years is correct:** By the age of **5 years**, a child has developed the fine motor control and spatial perception required to draw a **triangle**. However, drawing a **diamond** (rhombus) is a more complex task because it requires the ability to execute oblique lines that intersect at specific angles across the midline. A child typically masters the diamond shape at **6 years** of age. Therefore, the window where a child can draw a triangle but not yet a diamond is at 5 years. **Analysis of Incorrect Options:** * **3 years:** At this age, a child can typically copy a **circle**. They are just beginning to master vertical and horizontal strokes. * **4 years:** At this age, a child can copy a **cross (+)** and a **square**. They cannot yet master the diagonal intersections required for a triangle. * **6 years:** By this age, the child has reached the milestone of drawing a **diamond**. Since the question asks for the age where they *cannot* yet draw a diamond, 6 years is incorrect. **High-Yield Clinical Pearls for NEET-PG:** * **Sequence of Geometric Shapes:** Line (2y) → Circle (3y) → Plus/Square (4y) → Triangle (5y) → Diamond (6y). * **Handedness:** Usually determined by **2 to 3 years** of age. * **Draw-a-Person Test:** A 4-year-old typically draws a person with 3 parts; a 5-year-old draws a person with 6 parts. * **Rule of Thumb:** If a child cannot copy a square by age 5, it may indicate a developmental delay in fine motor or cognitive domains.

Q: A 4-year-old child can perform which of the following actions?

Stand on one foot for 20 seconds. This question tests the knowledge of **Gross Motor Milestones** in the preschool age group, a high-yield area for NEET-PG. ### **Explanation of the Correct Answer** **Option C (Stand on one foot for 20 seconds)** is the correct milestone for a **4-year-old**. At this age, balance and coordination improve significantly. While a 3-year-old can balance on one foot for only a few seconds, a 4-year-old can typically maintain this position for 5 to 10 seconds (with some sources and advanced testing criteria extending this to 20 seconds as they approach age 5). ### **Analysis of Incorrect Options** * **Option A (Hop on a single leg for 15 feet):** This is a more advanced coordination task. While a 4-year-old can hop on one foot, hopping for a sustained distance like 15 feet is typically expected of a **5-year-old**. * **Option B (Skip without falling):** Skipping is a complex motor skill requiring alternating coordination. It is a milestone for a **5-year-old**. (Note: A 4-year-old may gallop, but true skipping is age 5). * **Option D (Walk down stairs with alternating steps):** This is a milestone for a **3-year-old**. A 2-year-old goes down stairs two feet per step; by age 3, they alternate feet going up and down. ### **High-Yield Clinical Pearls for NEET-PG** * **Stair Climbing Rule:** * 2 years: Up and down (2 feet per step). * 3 years: Up (alternating), Down (alternating). * **Drawing/Fine Motor Milestones:** * 3 years: Circle * 4 years: Cross (+) and Square * 5 years: Triangle (Hardest to draw) * **Social Milestone:** A 4-year-old engages in **cooperative play** and can tell stories, whereas a 3-year-old engages in **parallel play**.

Q: A child makes a tower of 7 cubes at what age?

24 months. **Explanation:** The ability to stack cubes is a key milestone in **fine motor development**, reflecting a child’s progress in hand-eye coordination, precision of release, and spatial awareness. **Why 24 months is correct:** At **24 months (2 years)**, a child typically develops the manual dexterity to stack a tower of **6 to 7 cubes**. The standard formula used in pediatric assessments is that the number of cubes a child can stack is roughly three times their age in years (up to age 3), or follows a specific developmental sequence: * **15 months:** 2 cubes * **18 months:** 3–4 cubes * **24 months:** 6–7 cubes * **30 months:** 8 cubes * **36 months (3 years):** 9–10 cubes (or a bridge) **Analysis of Incorrect Options:** * **15 months:** The child is just beginning to stack; they can typically manage a tower of **2 cubes**. * **18 months:** The child can build a tower of **3 to 4 cubes**. They also begin to scribble spontaneously. * **30 months:** By this age, fine motor skills have advanced further, allowing the child to stack a tower of **8 cubes**. **High-Yield Clinical Pearls for NEET-PG:** * **Cube Size:** Standard developmental testing uses 1-inch (2.5 cm) cubes. * **The "Bridge" vs. "Gate":** At **3 years**, a child can build a **bridge** using 3 cubes. At **4 years**, they can build a **gate** using 5 cubes. * **Copying Shapes:** Remember the sequence: Circle (3 yrs) → Cross (4 yrs) → Square (4.5 yrs) → Triangle (5 yrs) → Diamond (6 yrs). * **Handedness:** Preference for one hand usually becomes established by **18–24 months**. If it appears before 12 months, it may indicate pathology (e.g., hemiplegic cerebral palsy) in the contralateral limb.

Q: The following clinical features are seen in which disease?

Down syndrome. ***Down syndrome*** - Classic features include **upslanting palpebral fissures**, **epicanthal folds**, **flat facial profile**, and **single palmar crease** (simian crease). - Associated with **hypotonia**, **intellectual disability**, and increased risk of **congenital heart defects** and **duodenal atresia**. *Turner syndrome* - Characterized by **short stature**, **webbed neck**, **shield chest**, and **lymphedema** in females. - Associated with **ovarian dysgenesis**, **coarctation of aorta**, and **45,X karyotype**, not the facial features described. *Fragile X-syndrome* - Features include **long face**, **prominent ears**, **macroorchidism** in males, and **intellectual disability**. - Caused by **FMR1 gene mutation** leading to absence of **FMRP protein**, not chromosomal trisomy. *Achondroplasia* - Presents with **disproportionate short stature**, **rhizomelic shortening** of limbs, and **macrocephaly**. - Caused by **FGFR3 gene mutation** affecting **cartilage formation**, without the typical facial dysmorphism of trisomy 21.

Q: All of the following are true statements about Down syndrome, except:

In quadruple test, Inhibin-A level is reduced. **Explanation:** The correct answer is **B**, as Inhibin-A levels are actually **increased**, not reduced, in Down syndrome. **1. Why Option B is the correct choice (The Exception):** In the prenatal screening for Down syndrome (Trisomy 21), the **Quadruple Test** (performed between 15-20 weeks) shows a specific pattern. In Down syndrome, **Inhibin-A** and **hCG** levels are **elevated** (High), while Alpha-fetoprotein (AFP) and Unconjugated Estriol (uE3) are **decreased** (Low). A mnemonic to remember this is **"HI"** (hCG and Inhibin are High). **2. Analysis of other options:** * **Option A:** While Fragile X syndrome is the most common *inherited* cause, Down syndrome is the most common **genetic/chromosomal** cause of intellectual disability. In the context of NEET-PG, this is a standard factual statement. * **Option C:** Approximately **95%** of Down syndrome cases are caused by **meiotic non-disjunction** (mostly maternal), making it the most common underlying mechanism. * **Option D:** The **Triple Test** pattern for Down syndrome is characterized by low AFP, low Estriol, and high hCG. This is a classic diagnostic finding. **High-Yield Clinical Pearls for NEET-PG:** * **Most common cardiac defect:** Atrioventricular Septal Defect (Endocardial cushion defect). * **First-trimester screening:** Shows **increased Nuchal Translucency (NT)** and **decreased PAPP-A**. * **Cytogenetics:** 95% due to Trisomy 21 (Non-disjunction), 4% due to Robertsonian Translocation (usually t14;21), and 1% due to Mosaicism. * **Gastrointestinal association:** Duodenal atresia ("Double bubble" sign) and Hirschsprung disease.

Q: Delayed dentition is usually considered when there are no teeth by what age?

13 months. **Explanation:** The eruption of the first primary tooth (usually the lower central incisor) typically occurs between **6 to 8 months** of age. While there is significant physiological variation, **delayed dentition** is clinically defined as the absence of any teeth by **13 months** of age. * **Why 13 months is correct:** Standard pediatric guidelines (including Nelson’s and OP Ghai) define the upper limit of normal for the eruption of the first tooth as 13 months. If no teeth have erupted by this age, a clinical evaluation for underlying systemic or genetic causes is warranted. * **Why other options are incorrect:** * **9 months:** This is within the normal range for many healthy infants. * **16 and 18 months:** These ages are significantly beyond the diagnostic threshold. Waiting until 18 months would delay the diagnosis of potential underlying conditions like hypothyroidism or rickets. **High-Yield Clinical Pearls for NEET-PG:** 1. **Sequence:** The first teeth to erupt are the **lower central incisors**, followed by the upper central incisors. 2. **Order of Primary Teeth:** Central Incisor → Lateral Incisor → First Molar → Canine → Second Molar. 3. **Total Count:** By **2.5 to 3 years**, all 20 primary (deciduous) teeth should have erupted. 4. **Common Causes of Delayed Dentition:** * **Idiopathic** (Most common) * **Nutritional:** Rickets (Vitamin D deficiency) * **Endocrine:** Hypothyroidism, Hypopituitarism * **Genetic/Syndromic:** Down syndrome, Cleidocranial dysplasia, Ectodermal dysplasia. 5. **Formula for number of teeth (6–24 months):** Age in months – 6.

Question 1

All of the following are true about Down syndrome except:

Accepted Answer

Hypoplasia of the middle phalanx of the 1st finger

Answer

Duodenal atresia

Answer

Trisomy 21

Answer

Simian crease

Question 2

What developmental milestone is typically achieved by a 3-month-old baby?

Accepted Answer

Head control

Answer

Pincer grasp

Answer

Sitting with support

Answer

Transferring objects from one hand to another

Question 3

Paternal 15 chromosome deletion is seen in which condition?

Accepted Answer

Prader Willi syndrome

Answer

Angelman syndrome

Answer

Down syndrome

Answer

Turner syndrome

Question 4

A male child presented with cryptorchidism, mental retardation, and pulmonary stenosis. He has a normal karyotype. Which of the following is the diagnosis?

Accepted Answer

Noonan's syndrome

Answer

Turner's syndrome

Answer

Down's syndrome

Answer

Angelman's syndrome

Question 5

A child can draw a triangle but not a diamond shape at what age?

Accepted Answer

5 years

Answer

3 years

Answer

4 years

Answer

6 years

Question 6

A 4-year-old child can perform which of the following actions?

Accepted Answer

Stand on one foot for 20 seconds

Answer

Hop on a single leg for 15 feet

Answer

Skip without falling to either side

Answer

Walk down the stairs with alternating steps while holding onto a handrail

Question 7

A child makes a tower of 7 cubes at what age?

Accepted Answer

24 months

Answer

15 months

Answer

18 months

Answer

30 months

Question 8

The following clinical features are seen in which disease?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Fragile X-syndrome

Answer

Achondroplasia

Question 9

All of the following are true statements about Down syndrome, except:

Accepted Answer

In quadruple test, Inhibin-A level is reduced

Answer

Most common inheritable cause of mental retardation

Answer

Most common cause is meiotic non-disjunction

Answer

In triple test (AFP |, estriol |, hcG |)

Question 10

Delayed dentition is usually considered when there are no teeth by what age?

Accepted Answer

13 months

Answer

18 months

Answer

9 months

Answer

16 months

Growth and Development — MCQs

Growth and Development — MCQs

On this page

Practice by Chapter

Want unlimited practice?