Growth and Development Practice Questions

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: A newborn male infant presents with the findings shown in the image. The clinical diagnosis is?

Epispadias. ***Epispadias*** - The image depicts a severe form of **epispadias**, characterized by the exposed **bladder mucosa (exstrophy)** and a penile shaft that is short, dorsally curved, and has the urethral opening on the dorsal surface. - This congenital anomaly results from a failure of the abdominal wall and bladder to close properly during fetal development, often presenting with a **widened pubic symphysis**. *Hypospadias* - **Hypospadias** is a condition where the **urethral opening** is located on the **ventral** (underside) surface of the penis, not the dorsal surface as seen in the image. - While it can involve chordee (penile curvature), it typically does not present with bladder exstrophy. *Micro-penis* - **Micropenis** refers to a penis that is **abnormally small** in length, but otherwise structurally normal. - It describes the size of the penis, not an anomalous opening or exposed internal organs, and is not consistent with the image. *Mauriac syndrome* - **Mauriac syndrome** is a rare complication of poorly controlled **Type 1 diabetes** in children, characterized by growth retardation, delayed puberty, hepatomegaly, and Cushingoid features. - It is an **endocrine disorder** and has no direct relevance to the anatomical abnormality shown in the image.

Q: A newborn presents with macrosomia, plethoric appearance, and generalized edema. The image shows:

Infant of diabetic mother. ***Infant of diabetic mother*** - The image shows a **macrosomic** infant with a **plethoric appearance**, generalized **edema**, and a **"cherubic" facial appearance** with a prominent philtrum and perioral cyanosis, all characteristic features of an infant of a diabetic mother. - Maternal diabetes leads to fetal **hyperinsulinemia**, resulting in increased fat deposition, organomegaly, and altered growth patterns. *Achondroplasia* - Achondroplasia is characterized by **proximal limb shortening** (rhizomelia), a large head with a prominent forehead, and a flattened nasal bridge. - The pictured infant does not show these specific skeletal dysplasias. *Hemi-hypertrophy* - Hemi-hypertrophy involves **asymmetric growth**, where one side or part of the body is significantly larger than the other. - The infant in the image exhibits generalized, symmetrical macrosomia rather than unilateral overgrowth. *Albright hereditary osteodystrophy* - Albright hereditary osteodystrophy is a genetic disorder associated with short stature, **obesity**, brachydactyly (short digits), and typically presents with features related to **pseudohypoparathyroidism** (e.g., hypocalcemia, hyperphosphatemia). - The characteristic findings of this syndrome, such as brachydactyly, are not evident in the image.

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.

Q: The reflex shown below disappears by what age?

3 months. ***3 months*** - The image depicts the **rooting reflex**, where a baby turns its head and opens its mouth in response to a touch on the cheek or around the mouth, indicating readiness to feed. - This primitive reflex is crucial for feeding in newborns and typically **disappears by 3-4 months of age**. - **3 months represents the beginning of the typical age range** when this reflex starts to disappear in neurologically normal infants. *1 month* - At 1 month of age, the rooting reflex is still prominently present and active. - This is too early for the reflex to disappear; it serves an important feeding function at this age. *2 months* - While the rooting reflex may begin to diminish slightly by 2 months, it typically persists beyond this age. - This represents an earlier disappearance than the accepted standard range of 3-4 months. *4 months* - By 4 months, the rooting reflex has usually fully integrated or disappeared in most neurologically normal infants. - While this is within the acceptable range (3-4 months), **3 months is the more commonly cited age** when disappearance typically begins. - Persistence beyond 4-6 months may warrant neurological evaluation.

Q: One-year-old child with refractory epilepsy. Which is incorrect about the child in picture given below?

Geographical skull. ***Geographical skull*** ✓ **Correct Answer (Incorrect about the child)** - **Geographical skull** (or "map-like skull") refers to characteristic **lytic lesions of the skull** seen in **Langerhans cell histiocytosis** (histiocytosis X). - This finding is **NOT associated with Sturge-Weber syndrome**, making this the correct answer to the question. - Sturge-Weber syndrome shows **intracranial calcifications** (tramline/railroad track sign) on imaging, not lytic lesions. *Port wine stain* ✗ **Incorrect (This IS present)** - The image shows a prominent **port-wine stain (nevus flammeus)** on the child's face, a classic cutaneous feature of **Sturge-Weber syndrome**. - This capillary vascular malformation typically follows the distribution of the **trigeminal nerve** (V1/V2 branches). *Seizures* ✗ **Incorrect (This IS present)** - **Refractory epilepsy** is a cardinal feature of Sturge-Weber syndrome, resulting from underlying **leptomeningeal angiomatosis** and progressive cortical damage. - The combination of facial **port-wine stain** and **seizures** is highly suggestive of this neurocutaneous syndrome. *Buphthalmos* ✗ **Incorrect (This CAN be present)** - **Buphthalmos** ("ox eye") refers to an enlarged eyeball associated with **congenital glaucoma**. - **Glaucoma** occurs in approximately **30-70%** of Sturge-Weber patients, particularly when the port-wine stain involves the **upper eyelid** (V1 distribution), indicating potential ocular involvement.

Q: The image shows:

Symmetrical IUGR. ***Symmetrical IUGR*** - The image displays a neonate with **proportionately small body parts**, including the head and trunk, which is characteristic of symmetrical intrauterine growth restriction. - This type of IUGR typically results from **early gestational insults** (e.g., genetic abnormalities, infections) affecting overall cell number and size. *Asymmetrical IUGR* - Asymmetrical IUGR (also known as "head-sparing" IUGR) is characterized by a **normal head size** relative to a disproportionately small body. - This condition usually occurs due to **late-onset fetal malnutrition** or placental insufficiency, where the brain is preferentially supplied with nutrients. *Proteus syndrome* - Proteus syndrome involves **overgrowth of various tissues** (skin, bone, adipose tissue), leading to asymmetrical and disorganized growth. - The image shows a uniformly small infant, not focal or multi-tissue overgrowth, ruling out Proteus syndrome. *Poland syndrome* - Poland syndrome is a rare birth defect characterized by **missing or underdeveloped muscles on one side of the body**, primarily affecting the chest and arm. - The infant in the image does not exhibit unilateral muscle deficiency or limb abnormalities typical of Poland syndrome.

Q: The image shows presence of:

Hemihypertrophy. ***Hemihypertrophy*** - The image clearly demonstrates **asymmetric growth**, with one leg appearing significantly larger and longer than the other, which is characteristic of hemihypertrophy. - This condition involves the **overgrowth of one side of the body or a body part**, and is often associated with certain genetic syndromes like Beckwith-Wiedemann syndrome. *Polydactyly* - **Polydactyly** refers to the presence of **extra fingers or toes**. - The image does not show any supernumerary digits; instead, it highlights a discrepancy in limb size. *Phocomelia* - **Phocomelia** is a rare congenital malformation where the **proximal parts of limbs are absent or severely reduced**, leading to hands or feet being attached close to the trunk. - The image displays fully formed limbs, albeit with disproportionate size. *Amniotic band sequence* - **Amniotic band sequence** results from entrapment of fetal parts in fibrous amniotic bands, leading to **constriction rings, amputations, or other deformities**. - No such bands, constrictions, or amputations are visible in the image; the primary finding is asymmetric limb growth.

Question 1

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 2

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 3

A newborn male infant presents with the findings shown in the image. The clinical diagnosis is?

Accepted Answer

Epispadias

Answer

Hypospadias

Answer

Micro-penis

Answer

Mauriac syndrome

Question 4

A newborn presents with macrosomia, plethoric appearance, and generalized edema. The image shows:

Accepted Answer

Infant of diabetic mother

Answer

Achondroplasia

Answer

Hemi-hypertrophy

Answer

Albright hereditary osteodystrophy

Question 5

Comment on the diagnosis of the child:

Accepted Answer

Congenital hypothyroidism

Answer

Down syndrome

Answer

Beckwith-Wiedemann syndrome

Answer

Hurler syndrome

Question 6

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

Question 7

The reflex shown below disappears by what age?

Accepted Answer

3 months

Answer

1 month

Answer

2 months

Answer

4 months

Question 8

One-year-old child with refractory epilepsy. Which is incorrect about the child in picture given below?

Accepted Answer

Geographical skull

Answer

Port wine stain

Answer

Seizures

Answer

Buphthalmos

Question 9

The image shows:

Accepted Answer

Symmetrical IUGR

Answer

Asymmetrical IUGR

Answer

Proteus syndrome

Answer

Poland syndrome

Question 10

The image shows presence of:

Accepted Answer

Hemihypertrophy

Answer

Polydactyly

Answer

Phocomelia

Answer

Amniotic band sequence

Growth and Development — MCQs

Growth and Development — MCQs

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