Growth and Development Practice Questions

Q: Which of the following reflexes is NOT prominent in a child at birth?

Tonic neck reflex. **Explanation:** The **Asymmetric Tonic Neck Reflex (ATNR)**, often called the "fencing posture," is the correct answer because it is typically **not prominent or consistently present at birth**. While it may be seen in a subtle form in some newborns, it reaches its peak prominence between **2 to 3 months** of age and disappears by 6 months. Its presence at birth is often weak, and a mandatory, obligatory ATNR at any age is considered pathological (suggesting cerebral palsy). **Analysis of Incorrect Options:** * **Moro’s Reflex:** This is a primitive reflex present from birth (appears at 28-32 weeks gestation). It is most prominent in the newborn period and typically disappears by 4–6 months. * **Glabellar Tap Reflex:** This is a clinical sign elicited by repetitive tapping on the forehead. A newborn will blink in response to the first few taps. It is a primitive reflex present at birth. * **Crossed Extensor Reflex:** This is a complex spinal reflex present at birth. When one leg is held in extension and the sole is stimulated, the opposite leg flexes, adducts, and then extends. It disappears by 1–2 months. **High-Yield Clinical Pearls for NEET-PG:** * **Disappearance of Reflexes:** Most primitive reflexes (Moro, Rooting, Sucking, Palmar grasp) disappear by **3–4 months**, except the Plantar grasp (9–12 months). * **Stepping/Walking Reflex:** Present at birth; disappears by 2 months. * **Parachute Reflex:** This is a protective reflex that **appears at 6–9 months** and persists throughout life. It is the most important reflex to assess for motor delay. * **Persistence** of primitive reflexes beyond the expected age is a sensitive early indicator of **upper motor neuron lesions** or developmental delay.

Q: A child is unable to perform motor functions such as skipping, walking on heels, hopping in place, or going forwards in tandem gait. At what age is this motor development considered to be delayed?

4 years. ### Explanation The question assesses the mastery of **Gross Motor Milestones** in the preschool and early school-age period. **1. Why 4 years is the correct answer:** By the age of **4 years**, a child typically develops the coordination and balance required to **hop on one foot**, **skip** (though skipping with alternating feet may take until age 5), **walk on heels**, and perform a **tandem gait** (walking heel-to-toe). These activities require advanced cerebellar function and motor planning. If a child cannot perform these tasks by age 4, it is considered a developmental delay in gross motor skills. **2. Why the other options are incorrect:** * **3 years:** At this age, a child can ride a tricycle, stand on one foot for a few seconds, and go upstairs using alternating feet, but they lack the balance for skipping or tandem walking. * **6 years:** By age 6, a child has already mastered these skills and is moving toward more complex coordination, such as riding a bicycle without training wheels. Waiting until age 6 to flag these deficits would be a late diagnosis. * **8 years:** This is well beyond the expected window for basic balance milestones. At 8 years, motor development focuses on refined sports skills and complex agility. **3. NEET-PG High-Yield Clinical Pearls:** * **Hopping vs. Skipping:** Hopping (on one foot) is a 4-year milestone; skipping (alternating feet) is often perfected by age 5. * **Stairs:** Up with alternating feet = 3 years; Down with alternating feet = 4 years. * **Tricycle:** A classic 3-year-old milestone ("3 wheels at 3 years"). * **Red Flag:** Inability to stand on one foot by age 4 warrants an evaluation for cerebellar or neuromuscular issues.

Q: A 12-year-old child presents with short stature. On evaluation, the bone age is found to be less than the chronological age. There are no dysmorphic features, and the child is otherwise healthy. What is the most likely diagnosis?

Constitutional delay of growth and puberty. ***Constitutional delay of growth and puberty*** - This condition is the most common cause of short stature in healthy children, defined by a delayed maturation profile resulting in **bone age significantly less** than the chronological age. - The child is otherwise healthy and lacks dysmorphic features, suggesting a normal eventual final height, albeit with delayed onset of **puberty** and growth spurt. *Familial short stature* - Children with this diagnosis are genetically programmed to be short, leading to a final adult height consistent with their parents' stature. - A key differentiating feature is that the **bone age is commensurate** with the chronological age, which contradicts the finding in this patient. *Achondroplasia* - This is a specific form of **skeletal dysplasia** characterized by marked physical findings, including **rhizomelic short limbs** (shortening of proximal segments) and **macrocephaly**. - The presence of *no dysmorphic features* in this child strongly argues against the diagnosis of achondroplasia. *Chondrodysplasia* - This term encompasses a broad group of disorders involving defects in cartilage and bone development, which typically result in **disproportionate short stature** and specific skeletal abnormalities. - The description of the child being *otherwise healthy* and lacking dysmorphic features makes a significant, underlying generalized skeletal dysplasia highly improbable.

Q: A 9-month-old infant is brought for a routine check-up. Which of the following developmental milestones is most likely to be present at this age?

Creeps well on hands and knees. ***Creeps well on hands and knees***- By 9 months, most infants can **pull themselves to stand** and are typically proficient in **creeping** (moving on hands and knees), which is essential for independent exploration.- While some infants crawl (belly down) by 7 months, true **creeping** on hands and knees is the expected major **gross motor milestone** by 9 months.*Mature grasp*- A **mature grasp**, also known as the **fine pincer grasp** (using the tips of the index finger and thumb), is typically achieved later, around **10 to 12 months** of age.- At 9 months, infants generally use an **inferior or crude pincer grasp** or release objects with variable control.*Can hop on one foot*- This is a **gross motor milestone** requiring advanced balance and coordination, typically achieved between **3 and 4 years** of age (preschool age).- A 9-month-old infant lacks the necessary **neuromuscular maturity** and lower limb strength for single-leg weight bearing and hopping.*Runs steadily*- The ability to **run steadily** is usually a milestone achieved around **18 to 24 months** of age (toddler years), after the child has mastered independent walking (12–15 months).- At 9 months, the focus is on **non-ambulatory mobility**, such as creeping and cruising along furniture.

Q: A 12-year-old girl has developed breast and pubic hair. The mother wants to know which sign of puberty will typically occur next?

Peak height. ***Peak height*** - **Peak Height Velocity (PHV)**, representing the maximal growth rate, is the **next major pubertal milestone** after the onset of **thelarche** (breast budding) and **pubarche** (pubic hair development). - In the typical sequence of female puberty, PHV occurs at Tanner stage 2-3, approximately **1 year before menarche**. - This is a highly predictable, measurable milestone that serves as a clinical marker of pubertal progression. *Vaginal discharge* - Mild physiologic **vaginal discharge** (leukorrhea) due to increasing estrogen often begins very early in puberty, frequently concurrent with or shortly after initial breast budding. - While it may already be present or developing, it is a **subtle, less predictable sign** compared to the major milestone of Peak Height Velocity. - It is not taught as a primary pubertal milestone in standard medical texts. *Menarche* - **Menarche** (first menses) is a **late pubertal event** occurring at Tanner stage 4, typically **2-2.5 years after thelarche**. - It follows Peak Height Velocity by approximately 1 year and signals the deceleration phase of the growth spurt. - This occurs well after the clinical scenario described. *Axillary hair development* - Axillary hair typically develops at **Tanner stage 4**, relatively late in puberty, closer to the time of menarche. - It follows both pubic hair development and Peak Height Velocity in the pubertal sequence.

Q: A girl presents with microcephaly and a high-pitched cry. Which of the following is the most likely chromosomal abnormality?

Deletion. ***Deletion***- The combination of **microcephaly** and a peculiar **high-pitched cry** (often described as 'cat-like') is the hallmark clinical presentation of **Cri-du-chat syndrome**.- Cri-du-chat syndrome is caused by a **deletion** of the distal part of the short arm of chromosome 5 (5p-).*Isochromosome*- An **isochromosome** is a structural chromosomal abnormality where an arm is duplicated, resulting in two copies of one arm and none of the other (e.g., often seen in X chromosome abnormalities like **Turner syndrome**).- This type of structural error does not typically result in the specific features of Cri-du-chat syndrome, which require the loss of specific genes on **chromosome 5 short arm**.*Trisomy*- **Trisomy** is the presence of an extra copy of a chromosome (47 total chromosomes, e.g., **Down syndrome - Trisomy 21**).- Syndromes resulting from autosomal trisomies (like Patau or Edwards) present with different constellations of congenital and developmental abnormalities, lacking the pathognomonic **cat-like cry**.*Mosaicism*- **Mosaicism** describes the presence of two or more populations of cells with different genotypes in one individual, often mitigating the severity of major aneuploidies.- While it can occur with some deletions, **mosaicism** is not the primary mechanism or classification for the specific **Cri-du-chat syndrome** which is defined by the **5p deletion**.

Q: While evaluating a 3-year-old with short stature, height is measured at 90cm and the lower segment is 45 cm. What is the likely diagnosis?

Spondyloepiphyseal dysplasia. ***Spondyloepiphyseal dysplasia*** - This child has an **upper:lower segment ratio of 1:1** (45 cm each), which indicates **adult body proportions at age 3** - Normal U:L ratio at 3 years should be approximately **1.3:1** (relatively longer trunk than legs) - Spondyloepiphyseal dysplasia causes **short trunk dwarfism** due to vertebral and epiphyseal involvement - The **limbs are relatively preserved**, leading to a **lower U:L ratio** than expected for age (approaching adult 1:1 ratio prematurely) - This creates **disproportionate short stature** with the trunk being the primary affected segment *Congenital hypothyroidism* - Causes **proportionate short stature** with generalized growth retardation - Would maintain normal U:L ratio for age (1.3:1 at 3 years) - Associated with delayed bone age, developmental delay, and other systemic features *Rickets* - Primarily affects the **lower limbs** with bowing deformities (genu varum/valgum) - Would cause a **higher U:L ratio** (relatively shorter legs) if severe - Does not typically present with this specific 1:1 ratio pattern *Achondroplasia* - Causes **short limb dwarfism** (rhizomelic shortening) - Would result in a **high U:L ratio** (relatively longer trunk than limbs) - Opposite pattern to what is seen in this case

Q: A mother brings her 5-month-old baby to the clinic for a routine pediatric check-up. The pediatrician observes that the baby actively looks at his mother's face and responds with interest as she talks to him, showing recognition and engagement. At what age is this developmental milestone typically first achieved?

3 months. ***3 months*** - This is the age when infants typically develop a **true social smile** and demonstrate increased interest and sustained gazing at faces, especially parents, showing early **recognition and engagement**. - At this stage, the coordination of vision and social interaction allows the baby to purposefully interact with the caregiver (reciprocal face-to-face exchange), often involving cooing and looking directly at the eyes. - This milestone represents a key social-emotional developmental marker in early infancy. *2 months* - At 2 months, infants typically begin exhibiting a **social smile**, but the sustained, attentive engagement, recognition, and responsive interaction described are usually not fully consistent until 3 months. - Visual skills are improving, but fixation is often transient, and recognition remains basic without the active, responsive interest observed in this scenario. *6 months* - By 6 months, recognition of familiar people is well established; this period is often characterized by the onset of **stranger anxiety** and more mature motor skills like sitting unsupported. - This stage focuses more on object manipulation (e.g., passing objects hand-to-hand) and early communication (babbling) rather than the initial emergence of face recognition and sustained social gaze. *9 months* - Milestones at 9 months include advanced motor skills such as the development of the **pincer grasp** and standing while holding onto furniture, as well as complex communication like understanding simple commands. - While social interaction is highly sophisticated, the initial establishment of active face recognition and responsive engagement (the core of the scenario) occurs much earlier, typically by 3 months.

Q: A child presents with features of short stature, muscle weakness, and learning disability. Chromosome analysis reveals a deletion on the long arm of chromosome 15q on the paternal side. What is the most likely diagnosis?

Prader-Willi syndrome. ***Correct: Prader-Willi syndrome*** - Caused by deletion or loss of function of **paternally inherited genes on chromosome 15q11-q13** - Classic features include **hypotonia, hyperphagia leading to obesity, short stature, hypogonadism, and learning disabilities** - The paternal origin of the deletion is key to diagnosis (genomic imprinting disorder) - Diagnostic criteria: characteristic facial features (almond-shaped eyes, narrow forehead), small hands and feet *Incorrect: Angelman syndrome* - Also involves chromosome 15q11-q13 but from **maternal deletion** (not paternal) - Features: severe intellectual disability, ataxia, happy demeanor with inappropriate laughter, seizures - Different clinical presentation despite same chromosomal region (imprinting disorder) *Incorrect: Rett syndrome* - X-linked dominant disorder caused by **MECP2 gene mutation** on chromosome X (not 15) - Primarily affects females with normal early development followed by regression - Characteristic hand-wringing movements and loss of purposeful hand skills *Incorrect: Cri du chat syndrome* - Caused by deletion on the **short arm of chromosome 5p** (not 15) - Named for characteristic cat-like cry in infancy - Features: microcephaly, wide-set eyes, low-set ears, severe intellectual disability

Q: A child presents with telecanthus, hypertelorism, antimongoloid slant, and cardiac defects. What is the most likely chromosomal abnormality?

Microdeletion. ***Microdeletion***- The combination of craniofacial irregularities like **telecanthus** and **hypertelorism**, along with congenital **cardiac defects** (often conotruncal like **Tetralogy of Fallot**), is the classical presentation of the **22q11.2 deletion syndrome** (DiGeorge syndrome or VCFS).- A **microdeletion** is the loss of a small, contiguous segment of a chromosome, identifiable via **Fluorescence In Situ Hybridization (FISH)** or chromosomal microarray, which is the underlying cause of this syndrome.*Translocation*- **Translocations** (exchange of genetic material between non-homologous chromosomes) are typically associated with large structural rearrangements or specific syndromes like **familial Down syndrome**, not the specific phenotype described here.- These features are characteristic of a small, defined contiguous gene deletion syndrome, which is not the primary consequence of a standard **translocation**.*Inversion*- An **inversion** is the reversal of a segment within a chromosome; while pathogenic if breakpoints disrupt critical genes, it is not the primary chromosomal mechanism responsible for the **22q11.2 deletion syndrome**.- Most inversions are **balanced rearrangements** and often have no phenotypic consequence unless gene expression is significantly altered.*Trisomy*- **Trisomy** refers to an extra whole copy of a chromosome (e.g., Trisomy 13, 18, 21), and the resulting syndromes have unique and different facial features (e.g., **Trisomy 21** classically presents with upslanting palpebral fissures).- While trisomies cause significant cardiac defects, the specific constellation of **telecanthus** and **antimongoloid slant** helps differentiate this from common trisomy syndromes.

Question 1

Which of the following reflexes is NOT prominent in a child at birth?

Accepted Answer

Tonic neck reflex

Answer

Moro's reflex

Answer

Glabellar tap reflex

Answer

Crossed extensor reflex

Question 2

A child is unable to perform motor functions such as skipping, walking on heels, hopping in place, or going forwards in tandem gait. At what age is this motor development considered to be delayed?

Accepted Answer

4 years

Answer

3 years

Answer

6 years

Answer

8 years

Question 3

A 12-year-old child presents with short stature. On evaluation, the bone age is found to be less than the chronological age. There are no dysmorphic features, and the child is otherwise healthy. What is the most likely diagnosis?

Accepted Answer

Constitutional delay of growth and puberty

Answer

Achondroplasia

Answer

Chondrodysplasia

Answer

Familial short stature

Question 4

A 9-month-old infant is brought for a routine check-up. Which of the following developmental milestones is most likely to be present at this age?

Accepted Answer

Creeps well on hands and knees

Answer

Runs steadily

Answer

Can hop on one foot

Answer

Mature grasp

Question 5

A 12-year-old girl has developed breast and pubic hair. The mother wants to know which sign of puberty will typically occur next?

Accepted Answer

Peak height

Answer

Vaginal discharge

Answer

Axillary hair development

Answer

Menarche

Question 6

A girl presents with microcephaly and a high-pitched cry. Which of the following is the most likely chromosomal abnormality?

Accepted Answer

Deletion

Answer

Mosaicism

Answer

Trisomy

Answer

Isochromosome

Question 7

While evaluating a 3-year-old with short stature, height is measured at 90cm and the lower segment is 45 cm. What is the likely diagnosis?

Accepted Answer

Spondyloepiphyseal dysplasia

Answer

Congenital hypothyroidism

Answer

Rickets

Answer

Achondroplasia

Question 8

A mother brings her 5-month-old baby to the clinic for a routine pediatric check-up. The pediatrician observes that the baby actively looks at his mother's face and responds with interest as she talks to him, showing recognition and engagement. At what age is this developmental milestone typically first achieved?

Accepted Answer

3 months

Answer

9 months

Answer

2 months

Answer

6 months

Question 9

A child presents with features of short stature, muscle weakness, and learning disability. Chromosome analysis reveals a deletion on the long arm of chromosome 15q on the paternal side. What is the most likely diagnosis?

Accepted Answer

Prader-Willi syndrome

Answer

Rett syndrome

Answer

Angelman syndrome

Answer

Cri du chat syndrome

Question 10

A child presents with telecanthus, hypertelorism, antimongoloid slant, and cardiac defects. What is the most likely chromosomal abnormality?

Accepted Answer

Microdeletion

Answer

Inversion

Answer

Translocation

Answer

Trisomy

Growth and Development — MCQs

Growth and Development — MCQs

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