Growth and Development Practice Questions

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.

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: 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.

Q: A child suffering from respiratory and feeding difficulties was brought for consultation. All of the following are to be considered in differential diagnosis of the child except:

Turner syndrome. ***Turner syndrome*** - Turner syndrome is a **chromosomal disorder** (45,XO) primarily affecting females, characterized by **short stature**, **gonadal dysgenesis**, and various physical features that typically do not include the severe craniofacial malformations causing immediate respiratory and feeding difficulties seen in the other syndromes. - While it can involve **cardiac anomalies** (e.g., coarctation of the aorta), these generally do not manifest as immediate life-threatening respiratory or feeding issues in the newborn period in the same way as disorders with significant craniofacial malformations. *Treacher Collins syndrome* - This is a **craniofacial dysostosis** characterized by **mandibulofacial anomalies**, including hypoplasia of the zygomatic bones and mandible, and downward-sloping palpebral fissures. - These malformations often lead to **airway obstruction** (due to micrognathia and glossoptosis) and **feeding difficulties**. *Pierre-Robin syndrome* - Characterized by the triad of **micrognathia**, **glossoptosis** (posterior displacement of the tongue), and **cleft palate**. - The combination of a small jaw and a tongue that falls back can cause severe **upper airway obstruction** and significant **feeding problems**. *Velocardiofacial syndrome* - Also known as **22q11.2 deletion syndrome**, this condition is associated with a wide range of features including **palatal abnormalities** (cleft palate or velopharyngeal insufficiency), **cardiac defects**, and distinctive facial features. - The palatal issues can lead to **feeding difficulties**, and cardiac or upper airway anomalies can contribute to **respiratory problems**.

Q: What is the expected karyotype in this child with the following findings and having pulmonic stenosis on Echocardiography?

46,XY. ***46,XY*** - The image depicts a child with features suggestive of **Noonan Syndrome**, characterized by widely spaced eyes, low-set ears, a short webbed neck, and **pulmonic stenosis**. - Noonan Syndrome is a **cardiofacial cutaneous syndrome** that is genetically heterogeneous; however, it typically presents with a **normal karyotype of 46,XY** for males or 46,XX for females, as it arises from mutations in genes like *PTPN11*, *SOS1*, *RAF1*, or *KRAS*, rather than chromosomal aneuploidies. *46,XX* - This karyotype represents a **normal female**. While females can have Noonan Syndrome, the general characteristic features pointing towards a male child in the provided image makes this option less likely in this specific context. - The question asks for the expected karyotype in "this child," implying a specific gender based on the drawing; however, if the child were female with Noonan Syndrome, 46,XX would be expected. *45,X* - This karyotype corresponds to **Turner Syndrome**, which typically affects females and is characterized by features such as **short stature**, a webbed neck, and **coarctation of the aorta** (not pulmonic stenosis). - While there is some phenotypic overlap (e.g., webbed neck), the presence of pulmonic stenosis and other facial features are more consistent with Noonan syndrome, which is not associated with a monosomy of the X chromosome. *47,XXY* - This karyotype represents **Klinefelter Syndrome**, which affects males and is characterized by **tall stature**, **hypogonadism**, and **gynecomastia**. - The features in the image, including the **facial dysmorphism** and **pulmonic stenosis**, are inconsistent with the typical presentation of Klinefelter Syndrome.

Q: During evaluation of a child with Down syndrome, the following finding is noted. Identify?

Simian crease. ***Simian crease*** - The image displays a **single palmar crease** (also known as a simian crease or transverse palmar crease), which is a common physical finding in individuals with **Down syndrome (Trisomy 21)**. - This crease runs straight across the palm, often replacing the usual two major palmar creases. *Kennedy crease* - This is **not a recognized medical term** for a palmar crease or any specific dermatological finding. - The feature shown in the image is a clearly defined, single transverse palmar crease. *Sydney line* - A **Sydney line** is another type of palmar crease abnormality where the proximal transverse crease extends across the entire palm, reaching the ulnar edge. - While it is a variation of palmar creases, the crease in the image appears as a single, bold transverse crease, more consistent with a **simian crease**. *Sandal gap* - A **sandal gap** refers to a wide space between the first and second toes, sometimes seen in newborns, including those with Down syndrome. - This finding relates to the **foot**, not the hand, and is not depicted in the provided image.

Q: Which of the following is associated with this condition?

Edward syndrome. ***Edward syndrome*** - The image shows **rocker-bottom feet**, which is a characteristic skeletal deformity seen in Edward syndrome (**Trisomy 18**). - Rocker-bottom feet present as a **convex sole** with prominent heel and a **vertical talus**, creating a "rocker" appearance, and is one of the classic **dysmorphic features** of Trisomy 18. - Other features of Edward syndrome include **overlapping fingers** (clenched fist with index finger over third finger), **low-set malformed ears**, **micrognathia**, and **congenital heart defects**. *Turner syndrome* - Turner syndrome affects females with **absent or partial X chromosome** (45,X0), characterized by **short stature**, **webbed neck**, **lymphedema**, and **cardiac anomalies** (coarctation of aorta, bicuspid aortic valve). - Not associated with the specific **rocker-bottom feet** deformity shown in the image. *Patau syndrome* - Patau syndrome (**Trisomy 13**) may rarely have rocker-bottom feet but is more characteristically associated with **polydactyly**, **midline defects** (cleft lip/palate, holoprosencephaly), **microphthalmia**, and **scalp defects**. - The isolated **rocker-bottom feet** shown is more specific to Edward syndrome. *Down syndrome* - Down syndrome (**Trisomy 21**) is associated with **sandal gap deformity** (wide space between first and second toe) due to **hypotonia** and **ligamentous laxity**. - While Down syndrome has foot abnormalities, **rocker-bottom feet** are characteristic of **Trisomy 18** (Edward syndrome), not Trisomy 21.

Q: During evaluation of a child with obesity, following finding is observed. What is the association?

Laurence-Moon-Bardet-Biedl syndrome. ***Laurence-Moon-Bardet-Biedl syndrome*** - The image exhibits **polydactyly**, characterized by the presence of **extra digits** on the hand, which is a common feature of Laurence-Moon-Bardet-Biedl syndrome. - This syndrome is a pleiotropic, autosomal recessive genetic disorder also characterized by **obesity**, **retinal degeneration**, **gonadal dysfunction**, **kidney abnormalities**, and **learning disorders**. *Prader-Willi syndrome* - Characterized by **severe hypotonia** and feeding difficulties in infancy, followed by **hyperphagia** and obesity in childhood. - While it causes obesity, it is not typically associated with **polydactyly**. *Beckwith-Wiedemann syndrome* - This syndrome is associated with **macrosomia**, **macroglossia**, **omphalocele**, **hemihyperplasia**, and an increased risk of childhood tumors. - It does not typically present with **polydactyly** or the constellation of symptoms seen in the given context. *Pseudo-pseudo-hypoparathyroidism* - This condition is a variant of **Albright's hereditary osteodystrophy** but without the biochemical abnormalities of hypoparathyroidism. - It is characterized by **short stature**, **brachydactyly**, **obesity**, and intellectual disability, but **polydactyly** is not a feature.

Question 1

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 2

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 3

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 4

The reflex shown below disappears by what age?

Accepted Answer

3 months

Answer

1 month

Answer

2 months

Answer

4 months

Question 5

The image shows presence of:

Accepted Answer

Hemihypertrophy

Answer

Polydactyly

Answer

Phocomelia

Answer

Amniotic band sequence

Question 6

A child suffering from respiratory and feeding difficulties was brought for consultation. All of the following are to be considered in differential diagnosis of the child except:

Accepted Answer

Turner syndrome

Answer

Treacher Collins syndrome

Answer

Pierre-Robin syndrome

Answer

Velocardiofacial syndrome

Question 7

What is the expected karyotype in this child with the following findings and having pulmonic stenosis on Echocardiography?

Accepted Answer

46,XY

Answer

46,XX

Answer

45,X

Answer

47,XXY

Question 8

During evaluation of a child with Down syndrome, the following finding is noted. Identify?

Accepted Answer

Simian crease

Answer

Kennedy crease

Answer

Sydney line

Answer

Sandal gap

Question 9

Which of the following is associated with this condition?

Accepted Answer

Edward syndrome

Answer

Turner syndrome

Answer

Patau syndrome

Answer

Down syndrome

Question 10

During evaluation of a child with obesity, following finding is observed. What is the association?

Accepted Answer

Laurence-Moon-Bardet-Biedl syndrome

Answer

Prader-Willi syndrome

Answer

Beckwith-Wiedemann syndrome

Answer

Pseudo-pseudo-hypoparathyroidism

Growth and Development — MCQs

Growth and Development — MCQs

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