Growth and Development Practice Questions

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.

Q: This baby has obesity along with organomegaly. Comment on the diagnosis from the hint given in the image?

Beckwith-Wiedemann syndrome. ***Beckwith-Wiedemann syndrome*** - The image shows **earlobe creases and posterior helical pits**, which, combined with the presence of **obesity and organomegaly** (as suggested by "obesity and organomegaly"), are classic features of Beckwith-Wiedemann syndrome. - Other common features include **macroglossia**, **omphalocele**, and an increased risk of specific childhood tumors like Wilms tumor and hepatoblastoma. *Prader-Willi syndrome* - Characterized by **obesity** due to hyperphagia, but typically presents with **almond-shaped eyes**, small hands and feet, and **hypotonia** in infancy, not earlobe creases or organomegaly in the same context. - It is caused by the loss of function of specific genes on **chromosome 15** typically inherited from the father. *Bell syndrome* - **Bell syndrome** is not a recognized medical syndrome presenting with obesity, organomegaly, and ear anomalies. This option appears to be a distractor. - The term "Bell's palsy" refers to **idiopathic facial paralysis**, which is unrelated to the described symptoms. *Laurence-Moon-Bardet-Biedl syndrome* - This syndrome is characterized by **obesity** but also includes features such as **rod-cone dystrophy**, **polydactyly**, kidney abnormalities, and cognitive impairment. - It does not typically present with the specific ear anomalies (creases, pits) or neonatal organomegaly seen in Beckwith-Wiedemann syndrome.

Q: Which of the following conditions is characterized by severe respiratory distress in newborns due to a small thorax, very short limbs, and a large head with midfacial hypoplasia and Cloverleaf skull deformity?

Thanatophoric dwarfism. ***Thanatophoric dwarfism*** - **Thanatophoric dwarfism** is a **lethal skeletal dysplasia** characterized by severe micromelia (very short limbs), a **small thorax**, and distinct craniofacial features including a large head with midfacial hypoplasia and **Cloverleaf skull deformity (Kleeblattschädel)** - The **small thorax** leads to **pulmonary hypoplasia**, causing severe respiratory distress and making it incompatible with life, typically resulting in death shortly after birth - It is caused by mutations in the **FGFR3 gene** and is the most common **lethal skeletal dysplasia** - The combination of cloverleaf skull, extreme micromelia, and severe respiratory distress is pathognomonic *Incorrect: Achondroplasia* - Most common **non-lethal** skeletal dysplasia also due to FGFR3 mutation - Features include short limbs and macrocephaly but **NO cloverleaf skull deformity** - Thorax is **relatively normal** - respiratory distress is not a feature - Compatible with life and normal intelligence *Incorrect: Osteogenesis imperfecta* - Characterized by **bone fragility** and multiple fractures, not micromelia - Craniofacial features include **blue sclera** and triangular facies, not cloverleaf skull - Caused by **collagen defects** (COL1A1/COL1A2 genes), not FGFR3 - Respiratory issues occur due to chest wall deformities from fractures, not small thorax *Incorrect: Achondrogenesis* - Another **lethal skeletal dysplasia** with severe micromelia and small thorax - However, it lacks the **characteristic cloverleaf skull deformity** and midfacial hypoplasia - Features include **severe trunk shortening**, hydrops fetalis, and markedly deficient ossification - Usually results in stillbirth or death within hours

Q: What is the dental condition shown in the image?

Fluorosis. ***Fluorosis*** - The image displays **dental fluorosis**, characterized by **white flecks, streaks, or brown staining** on the enamel surface, often accompanied by a mottled appearance. These changes result from **excessive fluoride intake** during tooth development. - In more severe cases, as seen here with the noticeable brown discoloration and pitting, the enamel can become **porous and discolored**, reflecting significant exposure to high levels of fluoride. *Megadont teeth* - **Megadontia (macrodontia)** refers to abnormally large teeth, which is not evident in the provided image. The size of the teeth appears within the typical range. - This condition is often associated with certain genetic syndromes or developmental anomalies, but the primary visual finding here is enamel discoloration, not size. *Dental caries* - **Dental caries**, or tooth decay, typically presents as **cavities or dark spots** caused by bacterial acid erosion of the enamel and dentin. - While some discoloration similar to early caries might be present, the widespread, mottled, and brown staining pattern across multiple teeth is more indicative of fluorosis rather than localized decay. *Dentinogenesis imperfecta* - **Dentinogenesis imperfecta** is a genetic disorder affecting dentin formation, leading to teeth that appear **opalescent or translucent with a blue-gray or amber hue**. - Teeth affected by dentinogenesis imperfecta are also prone to **rapid wear and fracture**, with characteristic radiographic findings such as bulbous crowns and obliterated pulp chambers, none of which are typically observed on external visual inspection for fluorosis.

Q: A newborn baby presents with hypotonia, flattened facial profile, and widely spaced first and second toes. The karyotype analysis is shown in the image. What is the most likely diagnosis?

Down's syndrome. ***Down's syndrome*** - The image presents a typical **karyotype** for Down's syndrome, specifically **Trisomy 21**, where there are three copies of chromosome 21 instead of two. - The phenotypic features shown, such as the widely spaced first and second toes (**sandal gap deformity**) and the general appearance of the infant (flattened facial profile, hypotonia, epicanthic folds), are characteristic of Down's syndrome. *Turner syndrome* - Turner syndrome is characterized by **monosomy X** (45, X), meaning there is only one X chromosome. - While associated with distinctive features like a **webbed neck** and **short stature**, these are not adequately represented or confirmed by the provided images, and the karyotype clearly shows an autosomal trisomy. *Prader-Willi syndrome* - Prader-Willi syndrome is caused by the **loss of function of specific genes on chromosome 15**, often due to a paternal deletion or maternal uniparental disomy. - It is characterized by **severe hypotonia** in infancy followed by **hyperphagia** and obesity in childhood, and there is no evidence of chromosome 15 abnormality in the karyotype. *Patau syndrome* - Patau syndrome is caused by **Trisomy 13**, meaning an extra copy of chromosome 13. - It typically manifests with severe developmental abnormalities, including **cleft lip/palate**, **polydactyly**, and severe central nervous system defects, which are distinct from the features presented in the image and not supported by the karyotype.

Q: A child can ride a tricycle, copies a circle, knows name and gender. The developmental age of this child is

3 years. ***3 years*** - A child who can **ride a tricycle**, **copy a circle**, and knows their **name and gender** has achieved developmental milestones typically seen around **3 years of age**. - **Riding a tricycle** demonstrates advanced gross motor skills, while **copying a circle** indicates fine motor skill development. **Knowing name and gender** points to cognitive and social-emotional understanding. *4 years* - By 4 years, a child can typically **hop on one foot**, **draw a square**, and **tell stories**. - While they might refine skills acquired at 3, the listed milestones are primary for the 3-year mark. *5 years* - A 5-year-old usually can **skip**, **draw a triangle**, and **count 10 or more objects**. - These milestones represent further advancements beyond those described in the question. *2 years* - At 2 years, a child typically starts to **kick a ball**, **draw a straight line**, and can say **two-to-four-word sentences**. - The skills described (tricycle, circle) are generally too advanced for a 2-year-old.

Q: A child can make a tower of 3 blocks, runs, copies his mother while sweeping and has a vocabulary of 8-10 words. His developmental age is

18 months. ***18 months*** - At 18 months, children typically can **build a tower of 2-4 cubes**, run, and have a vocabulary of approximately **10 words**. - They also begin to engage in **imitative play**, such as copying household tasks like sweeping. *15 months* - A 15-month-old can usually **build a tower of 2 blocks** and walk independently, but **running** is generally not yet mastered. - Their vocabulary is typically smaller, around **4-6 words**, and imitative play is less complex. *24 months* - By 24 months, a child can build a tower of **5-7 cubes**, kick a ball, and their vocabulary expands significantly to **50-100 words** or more, including combining two words. - They participate in more elaborate **pretend play** and understand two-step commands. *12 months* - A 12-month-old typically can **pull to stand**, take a few steps, and transfer objects between hands, but **running** is not expected. - Their vocabulary is limited to **1-3 words** (like "mama" or "dada"), and their constructive play is minimal.

Q: Child starts speaking short sentences by the age of :

24 months. ***24 months*** - By **24 months (2 years old)**, children typically begin to combine two or more words into **short sentences** and use about 50 words or more. - They also start to follow simple instructions and point to named objects and pictures. *15 months* - At **15 months**, children usually say a few words and can point to show what they want, but **short sentences** are not yet typical. They might use gestures more often. - Their vocabulary is still developing and usually consists of single words like "mama" or "dada." *12 months* - At **12 months (1 year old)**, most children are just starting to say their first words and are primarily communicating through gestures and sounds. - They are generally not forming combinations of words into sentences at this stage. *36 months* - By **36 months (3 years old)**, children have more advanced language skills, using **3-4 word sentences**, understanding most of what they hear, and having a vocabulary of several hundred words. - This age represents a more mature stage of language development than the initial formation of short sentences.

Q: Which of the following genetic disorders leads to intellectual disability?

Phenylketonuria. **Phenylketonuria** - **Phenylketonuria (PKU)** is an autosomal recessive metabolic disorder where the body cannot properly metabolize **phenylalanine**, an amino acid. - Accumulation of phenylalanine in the brain is neurotoxic and, if left untreated, leads to severe **intellectual disability** and **developmental delay**. *Cystic fibrosis* - Cystic fibrosis primarily affects the **lungs** and **digestive system**, leading to thick, sticky mucus production. - It does **not directly cause mental retardation**; intellectual function is typically normal. *Sickle cell anaemia* - Sickle cell anaemia is a **red blood cell disorder** causing chronic anaemia, pain crises, and organ damage. - It is **not directly associated with mental retardation**, although complications like stroke can indirectly affect cognitive function. *Haemophilia* - Haemophilia is a **bleeding disorder** characterized by a deficiency in clotting factors, leading to prolonged bleeding. - It primarily affects the **blood clotting process** and does **not cause mental retardation**.

Q: Flattening of the growth curve in the growth chart signifies:

Child is showing signs of growth failure. ***Child is showing signs of growth failure*** - A **flattening growth curve** indicates a deviation from the expected growth pattern, implying that the child is not growing at a healthy rate. - This pattern is a crucial visual cue on a growth chart that suggests **potential underlying health or nutritional issues** warranting further investigation. *Child does not need special care* - A flattening growth curve is a **red flag** that signifies growth faltering, meaning the child likely *does* need special care or intervention. - It suggests that the child's growth has **stalled or slowed significantly**, deviating from their usual percentile channel. *Child is severely malnourished* - While **severe malnutrition** can lead to a flattening growth curve, it is not the *only* cause; growth failure can stem from various factors, including chronic illness, inadequate caloric intake, or absorption problems. - A flattened curve indicates *growth failure*, which is a broader term, and further assessment is needed to determine if it has progressed to **severe malnutrition**. *Child is on a healthy path* - A **healthy growth path** is characterized by continued growth along a consistent percentile curve, or within a specific range, over time. - A flattening curve indicates a **departure from this healthy trajectory**, suggesting an issue that requires attention rather than a normal developmental course.

Question 1

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

Question 2

This baby has obesity along with organomegaly. Comment on the diagnosis from the hint given in the image?

Accepted Answer

Beckwith-Wiedemann syndrome

Answer

Prader-Willi syndrome

Answer

Bell syndrome

Answer

Laurence-Moon-Bardet-Biedl syndrome

Question 3

Which of the following conditions is characterized by severe respiratory distress in newborns due to a small thorax, very short limbs, and a large head with midfacial hypoplasia and Cloverleaf skull deformity?

Accepted Answer

Thanatophoric dwarfism

Answer

Achondroplasia

Answer

Osteogenesis imperfecta

Answer

Achondrogenesis

Question 4

What is the dental condition shown in the image?

Accepted Answer

Fluorosis

Answer

Megadont teeth

Answer

Dental caries

Answer

Dentinogenesis imperfecta

Question 5

A newborn baby presents with hypotonia, flattened facial profile, and widely spaced first and second toes. The karyotype analysis is shown in the image. What is the most likely diagnosis?

Accepted Answer

Down's syndrome

Answer

Turner syndrome

Answer

Prader-Willi syndrome

Answer

Patau syndrome

Question 6

A child can ride a tricycle, copies a circle, knows name and gender. The developmental age of this child is

Accepted Answer

3 years

Answer

4 years

Answer

5 years

Answer

2 years

Question 7

A child can make a tower of 3 blocks, runs, copies his mother while sweeping and has a vocabulary of 8-10 words. His developmental age is

Accepted Answer

18 months

Answer

15 months

Answer

24 months

Answer

12 months

Question 8

Child starts speaking short sentences by the age of :

Accepted Answer

24 months

Answer

15 months

Answer

12 months

Answer

36 months

Question 9

Which of the following genetic disorders leads to intellectual disability?

Accepted Answer

Phenylketonuria

Answer

Cystic fibrosis

Answer

Sickle cell anaemia

Answer

Haemophilia

Question 10

Flattening of the growth curve in the growth chart signifies:

Accepted Answer

Child is showing signs of growth failure

Answer

Child does not need special care

Answer

Child is severely malnourished

Answer

Child is on a healthy path

Growth and Development — MCQs

Growth and Development — MCQs

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