Growth and Development Practice Questions

Q: The image shows a child with:

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. - This genetic disorder affects **connective tissue**, leading to characteristic skeletal, cardiovascular, and ocular abnormalities. *Acromegaly* - **Acromegaly** is caused by excessive growth hormone production in adulthood, leading to the **enlargement of hands, feet, and facial features**, not the general tall and slender stature seen here. - 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 decreased interpedicular distance in the lumbar spine, 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.

Q: Which is true about the instrument shown?

All are correct. ***All are correct*** - This instrument, known as an **orchidometer**, is used to measure and assess **testicular volume** by comparing the patient's testicular size to the graduated ellipses. - The first three beads (1, 2, 3 ml) represent **prepubertal testicular volumes**, indicating little to no pubertal development. - Puberty is considered to have started when the testicular volume reaches **4 mL** or more, which is the established threshold for **Tanner stage 2** in male pubertal development. *Used to assess testicular volume* - The pictured instrument is an **orchidometer**, specifically designed for the clinical assessment of **testicular size** and volume. - It consists of a series of beads of increasing sizes, each labeled with a volume in milliliters, which are used to visually and tactilely compare against the patient's testicles. *First three beads are pre pubertal* - Testicular volumes of **1, 2, and 3 mL** are considered to be within the **prepubertal range**. - These volumes indicate that significant pubertal development has not yet begun. *Puberty starts at ≥4 ml* - A testicular volume of **≥4 mL** is the clinical indicator of the **onset of puberty (Tanner stage 2)** in males. - This threshold signifies the beginning of **gonadal maturation** and testicular growth associated with pubertal hormonal changes.

Q: What is the diagnosis of this child with short stature and corneal opacity?

Mucopolysaccharidosis. ***Mucopolysaccharidosis*** - The combination of **short stature** and **corneal opacity** (corneal clouding) is pathognomonic for Mucopolysaccharidoses (MPS). - MPS are lysosomal storage disorders characterized by the accumulation of **glycosaminoglycans (GAGs)** in various tissues, leading to multi-system involvement. - Corneal clouding is particularly seen in **MPS I-H (Hurler), I-S (Scheie), IV (Morquio), and VI (Maroteaux-Lamy)**. - Other features include coarse facial features, hepatosplenomegaly, skeletal dysplasia, and developmental delay. *Cretin* - **Cretinism** (congenital hypothyroidism) presents with **short stature**, developmental delay, and coarse features. - **Corneal opacity is NOT a typical manifestation** of hypothyroidism. - Other common features include large tongue, umbilical hernia, hypotonia, and prolonged jaundice. *Peroxisomal disorders* - **Peroxisomal disorders** (e.g., Zellweger syndrome) involve neurological and developmental abnormalities with **short stature**. - While some may rarely have corneal changes, **cataracts and retinopathy** are more characteristic ocular findings. - The combination of short stature with prominent corneal opacity is not typical. *Lesch-Nyhan syndrome* - **Lesch-Nyhan syndrome** is an X-linked recessive disorder of purine metabolism causing **hyperuricemia** and severe neurological dysfunction. - It does NOT present with **short stature** or **corneal opacity**. - Characteristic features include self-mutilation behavior, dystonia, choreoathetosis, and developmental delay.

Q: Which is true about the reflex shown in the image?

Asymmetric tonic neck reflex. ***Asymmetric tonic neck reflex*** - The image shows the infant's head turned to one side, with the arm and leg on that side **extended**, and the arm and leg on the opposite side **flexed**, resembling a "fencer" pose. - This reflex is normally present from birth to 6 months of age and is important for developing **hand-eye coordination**. *Gallant reflex* - The Gallant reflex (or truncal incurvation reflex) is elicited by stroking the skin along one side of the infant's spine, causing the **trunk to flex** towards the stimulated side. - It is typically present at birth and integrates by 4-6 months, and is not demonstrated by the body posture in the image. *Parachute reflex* - The parachute reflex (or protective extension reflex) involves an infant extending their arms forward to **brace for a fall** when suddenly moved headfirst towards a surface. - This reflex develops later, typically around 6-9 months of age, and is crucial for **fall prevention**. *Symmetric tonic neck reflex* - The symmetric tonic neck reflex is elicited by **flexing or extending the infant's head**. - Head flexion causes the arms to flex and the legs to extend, while head extension causes the arms to extend and the legs to flex. This differs from the unilateral arm and leg movements shown.

Q: All are true about this reflex except:

First primitive reflex to disappear. ***First primitive reflex to disappear*** - The **Moro reflex** typically disappears around **3-6 months** of age, making it one of the later primitive reflexes to vanish, not the first. - Other reflexes like the **rooting reflex** (disappears around 4 months) or **stepping reflex** (disappears around 2 months) may disappear earlier or around the same time. *Embracing reflex* - The Moro reflex is also known as the **embracing reflex** due to the characteristic adduction and flexion of the limbs, as if embracing, following the initial abduction. - This name accurately describes the two-part motor response observed in infants. *Bilateral absence is seen in HIE stage III* - The **Moro reflex** can be absent bilaterally in severe neurological conditions such as **Hypoxic-Ischemic Encephalopathy (HIE) stage III**, indicating significant brain damage. - Its absence is a key indicator of **neurological dysfunction** in neonates. *Unilateral absence in Erb's palsy.* - **Unilateral absence** of the Moro reflex is often a sign of a neurological or musculoskeletal injury on one side of the body, such as **Erb's palsy**, which involves damage to the brachial plexus. - It can also be seen in cases of **fractured clavicle** or **humerus** on the affected side.

Question 1

The image shows a child with:

Accepted Answer

Marfan syndrome

Answer

Acromegaly

Answer

Ehlers-Danlos

Answer

Cutis laxa

Question 2

The image shows a child with:

Accepted Answer

Achondroplasia

Answer

Osteogenesis imperfecta

Answer

Hypothyroidism

Answer

Down syndrome

Question 3

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 4

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 5

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 6

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

Question 7

Which is true about the instrument shown?

Accepted Answer

All are correct

Answer

Used to assess testicular volume

Answer

First three beads are pre pubertal

Answer

Puberty starts at ≥4 ml

Question 8

What is the diagnosis of this child with short stature and corneal opacity?

Accepted Answer

Mucopolysaccharidosis

Answer

Cretin

Answer

Peroxisomal disorders

Answer

Lesch-Nyhan syndrome

Question 9

Which is true about the reflex shown in the image?

Accepted Answer

Asymmetric tonic neck reflex

Answer

Gallant reflex

Answer

Parachute reflex

Answer

Symmetric tonic neck reflex

Question 10

All are true about this reflex except:

Accepted Answer

First primitive reflex to disappear

Answer

Embracing reflex

Answer

Bilateral absence is seen in HIE stage III

Answer

Unilateral absence in Erb's palsy

Growth and Development — MCQs

Growth and Development — MCQs

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