Growth and Development Practice Questions

Q: An infant turns their head toward the sound of a rattle held to the side, outside their initial visual field. By what age can a child perform this activity?

5–6 months. Here's an explanation based on the image, which depicts a child turning their head to the sound of a rattle, a developmental milestone. ***5–6 months*** - Turning the head towards a sound, especially a rattle held to the side, is a typical **auditory localization** skill developed around 5-6 months of age. - At this age, infants also begin to sit with support and reach for objects, indicating developing **motor and cognitive abilities**. - This represents the infant's ability to integrate auditory input with motor response. *2–3 months* - At this age, infants show **primitive auditory responses** such as startling to loud sounds or briefly stopping activity when hearing a voice. - They cannot yet **localize sound** by turning their head toward the source consistently. *9–10 months* - By this age, infants have already mastered auditory localization and can perform more complex tasks like responding to their name and understanding simple commands. - They demonstrate **advanced social and language skills** beyond simple sound localization. *12–15 months* - At this age, children are typically **walking independently** and using several meaningful words. - Sound localization is a skill already well-established by this developmental stage.

Q: The image shows a child jumping rope. To assess the distinct gross motor milestone of locomotor skipping, the examiner asks the child to move forward using a smooth, alternating step-hop pattern. By what age do most children perform this skill smoothly?

5 years. Most children can perform smooth locomotor skipping by about 5 years of age. Skipping is an alternating step-hop movement performed while traveling forward and requires rhythm, balance, and bilateral coordination. It is distinct from jumping rope, the activity shown in the image, which involves coordinating repeated jumps with rotation of a rope. Younger children may gallop, hop, or make early skipping attempts, but coordinated, fluid skipping is generally expected around age 5.

Q: The image shows an infant in the prone position sustaining head control while bearing weight on forearms. This developmental milestone corresponds to which age?

12 weeks. ***12 weeks*** - At 12 weeks (3 months), infants typically develop the ability to **hold their head up steadily** when placed on their tummy and can **bear weight on their forearms**, as shown in the image. - They also start to **reach for and bat at objects**, indicating improved hand-eye coordination. *8 weeks* - At 8 weeks (2 months), infants generally have **limited head control** and are usually able to lift their head briefly, but not steadily for extended periods. - They are typically not yet able to **bear significant weight on their forearms** or actively reach for objects with purpose. *16 weeks* - By 16 weeks (4 months), infants have usually achieved excellent **head control** and can often **roll from tummy to back**. - They are also typically able to **grasp objects** and bring them to their mouth, which is more advanced than what is depicted. *20 weeks* - At 20 weeks (5 months), infants are usually able to **roll both ways** (tummy to back and back to tummy) and can often **sit with support**. - They show more complex actions like **passing objects from one hand to another**, which is beyond the developmental stage shown.

Q: A 5-year-old short stature child is brought for evaluation. Which disease is the most likely diagnosis as depicted by these pictures of the child, foot and retina?

Bardet-Biedl syndrome. ***Bardet-Biedl syndrome*** - This rare autosomal recessive ciliopathy is characterized by a **classic pentad**: central obesity, **polydactyly**, **retinal dystrophy** (rod-cone dystrophy), renal abnormalities, and hypogonadism. - The combination of **short stature with obesity**, **polydactyly** (clearly visible in the foot image), and **pigmentary retinopathy** (visible in the retinal image) is **pathognomonic** for Bardet-Biedl syndrome. - This is the **only syndrome among the options** that presents with all three clinical features shown in the images. *Prader-Willi syndrome* - Characterized by **hypotonia** in infancy, **hyperphagia** leading to obesity, short stature, and distinct facial features (almond-shaped eyes, narrow forehead). - Does **not present with polydactyly** or the specific type of **retinal dystrophy** seen in Bardet-Biedl syndrome. - Caused by loss of paternally expressed genes on chromosome 15q11-13. *Alstrom syndrome* - Rare autosomal recessive disorder sharing features like obesity and **cone-rod dystrophy** (retinal degeneration). - Distinguished by early-onset **dilated cardiomyopathy**, **progressive hearing loss**, and **type 2 diabetes**. - **Polydactyly is not a feature** of Alstrom syndrome, making it unlikely given the foot abnormality in the image. *Carpenter syndrome* - Rare form of **acrocephalopolysyndactyly** characterized by **craniosynostosis** (premature fusion of skull sutures), distinctive craniofacial anomalies, **polysyndactyly**, and obesity. - While it includes polydactyly, it is distinguished by severe **skull and facial deformities** (tower-shaped skull, flat nasal bridge). - Does **not typically involve retinopathy**, making it inconsistent with the retinal findings shown.

Q: The image shows a child with a positive wrist sign (thumb overlaps the fifth finger when wrapping around the wrist) and the following appearance:

Marfan syndrome. ***Marfan syndrome*** - The child in the image exhibits classic features of **Marfan syndrome**, including a **tall, thin build** and **elongated limbs** (**dolichostenomelia**), particularly noticeable in the long arms and fingers relative to the trunk. - A positive **wrist sign** (Walker sign: the thumb overlaps the fifth finger when wrapping around the wrist) is an objective clinical marker of arachnodactyly seen in Marfan syndrome. - This genetic disorder affects **connective tissue**, leading to characteristic skeletal, cardiovascular, and ocular abnormalities. *Acromegaly* - **Acromegaly** is caused by excessive growth hormone production after **epiphyseal closure**, leading to the **enlargement of hands, feet, and facial features**, not the general tall and slender stature seen here. Growth hormone excess before epiphyseal closure causes gigantism rather than acromegaly. - It typically presents with **thickening of soft tissues, skin tags, and coarsening of facial features**, which are absent in this child. *Ehlers-Danlos* - **Ehlers-Danlos syndromes** are characterized by **skin hyperextensibility**, **joint hypermobility**, and **tissue fragility**. - While there is some overlap in connective tissue involvement, the predominant features in the image (extreme tall stature, slender build, disproportionately long limbs) are more indicative of Marfan syndrome rather than Ehlers-Danlos, which often involves significant skin and joint laxity. *Cutis laxa* - **Cutis laxa** is a rare connective tissue disorder characterized by **loose, inelastic, and wrinkled skin** that hangs in folds. - This condition does not typically present with the extreme tall stature and arachnodactyly seen in the image.

Q: The image shows a child with:

Achondroplasia. ***Achondroplasia*** - The image shows disproportionate **short stature** with short limbs, a normal-sized trunk, and a relatively large head, which are classic features of achondroplasia. - The radiograph of the hip **(second image from the left)** shows abnormal shape of the pelvis with short iliac bones, and the hand image displays **trident hand deformity**, all characteristic of achondroplasia due to defective endochondral ossification caused by a mutation in the **FGFR3 gene**. *Osteogenesis imperfecta* - Characterized by **bone fragility** leading to recurrent fractures, **blue sclera**, and **dentinogenesis imperfecta**. - These clinical features are not evident in the provided images; no obvious fractures or blue sclera are shown. *Hypothyroidism* - In children, severe congenital hypothyroidism (cretinism) can cause **growth retardation, intellectual disability, coarse facial features**, and delayed bone maturation. - While it causes short stature, the specific skeletal deformities, and trident hand seen in the images are not typical of hypothyroidism. *Down syndrome* - Characterized by distinct facial features such as **upward slanting palpebral fissures, epicanthic folds, a flattened nasal bridge**, and often intellectual disability, and congenital heart defects. - The child in the image does not display the characteristic facial features or other common physical stigmata of Down syndrome such as brushfield spots or a single palmar crease.

Q: Which of the following is the probable diagnosis in this child with dwarfism, coarse facies. X-ray spine lateral view and X-ray hand is shown?

Morquio disease. ***Morquio disease*** - The combination of **dwarfism**, **coarse facies**, and the characteristic radiographic findings of **platyspondyly** (flattened vertebral bodies) on the spine X-ray and **irregularly shaped epiphyses and carpals** on the hand X-ray strongly indicates **Morquio disease** (Mucopolysaccharidosis Type IV). - Patients typically present with significant skeletal abnormalities, including **kyphoscoliosis**, **knock-knees (genu valgum)**, and a waddling gait, consistent with the child's appearance. *Tay-Sachs disease* - Tay-Sachs disease is a **neurodegenerative disorder** characterized by developmental regression, **hyperacusis**, and a **cherry-red spot on the macula**, rather than skeletal deformities or dwarfism. - It does not typically cause the bone abnormalities seen in the provided X-rays or the coarse facial features and dwarfism. *Von Gierke disease* - Von Gierke disease (Glycogen Storage Disease Type I) is characterized by **hepatomegaly**, **hypoglycemia**, **lactic acidosis**, and typically does not present with dwarfism, coarse facies, or the skeletal radiologic findings demonstrated. - This condition primarily affects **glucose metabolism** and liver function, with no significant impact on bone development. *Hypothyroidism* - While **congenital hypothyroidism** can cause dwarfism and coarse facial features, the specific skeletal abnormalities on the X-rays, such as **platyspondyly** and **epiphyseal dysplasia**, are more characteristic of a mucopolysaccharidosis like Morquio disease. - Hypothyroidism would typically show **delayed bone age** and **epiphyseal dysgenesis**, but not the distinct vertebral and carpal bone changes seen here.

Q: All of the following can be causes of this enlarged tongue except: (Recent NEET Pattern 2016-17)

Fabry's disease. ***Fabry's disease*** - Fabry's disease is a **lysosomal storage disorder** caused by a deficiency of the enzyme **alpha-galactosidase A**, leading to the accumulation of globotriaosylceramide. - While it affects various organs, **macroglossia (enlarged tongue) is not a typical or primary feature** of Fabry's disease. *Beckwith-Wiedemann syndrome* - This is a **growth disorder** often characterized by **macroglossia**, which is an enlarged tongue, as seen in the image. - Other features include **omphalocele**, **hemihyperplasia**, and an increased risk of childhood tumors. *Lysosomal storage disorder* - Some lysosomal storage disorders, such as certain forms of **mucopolysaccharidoses** (e.g., Hurler syndrome), can cause cellular accumulation of undigested waste products, leading to **organomegaly including macroglossia**. - This broad category includes conditions where the tongue can be enlarged due to accumulation of specific substrates. *Glycogen storage disorder* - Specifically, **Glycogen Storage Disease Type II (Pompe disease)** is a **lysosomal storage disorder** characterized by the accumulation of glycogen in lysosomes, particularly in muscle tissue. - This accumulation can lead to **cardiomyopathy**, muscle weakness, and often **macroglossia**.

Q: The following child has presented with disfigurement and rapidly progressive overgrowth of some body parts. The clinical diagnosis is?

Proteus syndrome. ***Proteus syndrome*** - The image depicts a child with **asymmetric overgrowth** and **disfigurement** of body parts, particularly the hand and arm, which are characteristic features of Proteus syndrome. - Proteus syndrome is a rare genetic disorder characterized by **sporadic, postnatal, mosaic overgrowth** of various tissues, including skin, bone, adipose tissue, and blood vessels. *Hurler syndrome* - Hurler syndrome (MPS I) is a **lysosomal storage disorder** characterized by coarse facial features, corneal clouding, hepatosplenomegaly, and skeletal deformities (dysostosis multiplex). - It does not typically present with the extreme, asymmetric overgrowth of limbs seen in the image. *Sotos syndrome* - Sotos syndrome, or **cerebral gigantism**, is characterized by overgrowth starting in childhood, distinctive facial features, and developmental delay. - While it involves overgrowth, it usually presents as generalized overgrowth rather than the highly asymmetric and disfiguring localized overgrowth seen here. *Crouzon syndrome* - Crouzon syndrome is a form of **craniosynostosis**, characterized by premature fusion of the skull sutures, leading to distinctive facial features such as shallow orbits, proptosis, and hypertelorism. - It does not involve the progressive, asymmetric overgrowth of limbs or other body parts as shown in the image.

Q: An obese 3-year-old, short stature child with history of hyperphagia, almond eyes and small hands and feet is brought for consultation. On neurological examination hypotonia is noted. IQ is very low. The probable cause is?

Deletion of long arm of chromosome 15. ***Deletion of long arm of chromosome 15*** - The constellation of symptoms including **obesity**, **hyperphagia**, **short stature**, **hypotonia**, **small hands and feet**, **almond-shaped eyes**, and **developmental delay/low IQ** is highly characteristic of **Prader-Willi syndrome**. - Prader-Willi syndrome is caused by the **deletion of the paternal allele on the long arm of chromosome 15 (15q11-q13)** or maternal **uniparental disomy of chromosome 15**. *Trisomy 21* - **Trisomy 21 (Down syndrome)** typically presents with characteristic facial features such as a flat facial profile, upslanting palpebral fissures, and epicanthic folds, but not usually almond-shaped eyes in the same context as Prader-Willi. - While hypotonia and developmental delay are common in Down syndrome, **hyperphagia leading to extreme obesity** and **small hands and feet** are not typical features. *Deletion of long arm of chromosome 7* - Deletion of the long arm of chromosome 7 is associated with **Williams syndrome**, which presents with distinct features such as a "elfin" facial appearance, outgoing personality, and cardiovascular anomalies (e.g., supravalvular aortic stenosis). - Features like **hyperphagia**, **obesity**, **hypotonia**, and **small hands and feet** are not characteristic of Williams syndrome. *Deletion of X chromosome* - **Deletion of the X chromosome** is associated with **Turner syndrome (45, XO)**, affecting females. - Key features include short stature, webbed neck, widely spaced nipples, and gonadal dysgenesis. **Obesity**, **hyperphagia**, **hypotonia**, and developmental delay (especially intellectual disability or low IQ) are not primary features.

Question 1

An infant turns their head toward the sound of a rattle held to the side, outside their initial visual field. By what age can a child perform this activity?

Accepted Answer

5–6 months

Answer

2–3 months

Answer

12–15 months

Answer

9–10 months

Question 2

The image shows a child jumping rope. To assess the distinct gross motor milestone of locomotor skipping, the examiner asks the child to move forward using a smooth, alternating step-hop pattern. By what age do most children perform this skill smoothly?

Accepted Answer

5 years

Answer

3 years

Answer

4 years

Answer

6 years

Question 3

The image shows an infant in the prone position sustaining head control while bearing weight on forearms. This developmental milestone corresponds to which age?

Accepted Answer

12 weeks

Answer

8 weeks

Answer

20 weeks

Answer

16 weeks

Question 4

A 5-year-old short stature child is brought for evaluation. Which disease is the most likely diagnosis as depicted by these pictures of the child, foot and retina?

Accepted Answer

Bardet-Biedl syndrome

Answer

Prader-Willi syndrome

Answer

Alstrom syndrome

Answer

Carpenter syndrome

Question 5

The image shows a child with a positive wrist sign (thumb overlaps the fifth finger when wrapping around the wrist) and the following appearance:

Accepted Answer

Marfan syndrome

Answer

Cutis laxa

Answer

Ehlers-Danlos

Answer

Acromegaly

Question 6

The image shows a child with:

Accepted Answer

Achondroplasia

Answer

Osteogenesis imperfecta

Answer

Down syndrome

Answer

Hypothyroidism

Question 7

Which of the following is the probable diagnosis in this child with dwarfism, coarse facies. X-ray spine lateral view and X-ray hand is shown?

Accepted Answer

Morquio disease

Answer

Tay-Sachs disease

Answer

Von Gierke disease

Answer

Hypothyroidism

Question 8

All of the following can be causes of this enlarged tongue except: (Recent NEET Pattern 2016-17)

Accepted Answer

Fabry's disease

Answer

Beckwith-Wiedemann syndrome

Answer

Lysosomal storage disorder

Answer

Glycogen storage disorder

Question 9

The following child has presented with disfigurement and rapidly progressive overgrowth of some body parts. The clinical diagnosis is?

Accepted Answer

Proteus syndrome

Answer

Hurler syndrome

Answer

Sotos syndrome

Answer

Crouzon syndrome

Question 10

An obese 3-year-old, short stature child with history of hyperphagia, almond eyes and small hands and feet is brought for consultation. On neurological examination hypotonia is noted. IQ is very low. The probable cause is?

Accepted Answer

Deletion of long arm of chromosome 15

Answer

Trisomy 21

Answer

Deletion of long arm of chromosome 7

Answer

Deletion of X chromosome

Growth and Development — MCQs

Growth and Development — MCQs

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