Paediatrics Marrow Pg 41-50 (Growth & Development)
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Questions and Answers

Which of the following conditions is associated with a normal growth velocity and normal bone age?

  • Abnormal growth velocity
  • Delayed bone age
  • Familial short stature (correct)
  • Proportionate short stature

    • Abnormal disproportionate short stature is indicated by a decreased upper segment to lower segment ratio.

    False

    What is a common symptom of Marfan syndrome?

    Superior lens dislocation

    A person with a height greater than +2SD or the 97th percentile is classified as having ________________.

    <p>tall stature</p> Signup and view all the answers

    Match each condition with its description:

    <p>Klinefelter's syndrome = Genetic condition associated with tall stature Homocystinuria = Metabolic disorder due to cystathionine -β synthase deficiency Pituitary adenoma = Endocrine disorder causing GH excess Sotos syndrome = Syndrome associated with overgrowth and cerebral gigantism</p> Signup and view all the answers

    Which of the following conditions is associated with the expansion of the skull due to hemolytic anemia?

    <p>β-thalassemia major</p> Signup and view all the answers

    Megalencephaly can result from craniosynostosis.

    <p>False</p> Signup and view all the answers

    What is a common facial characteristic of Fragile X syndrome?

    <p>Long face and large ears</p> Signup and view all the answers

    Which type of craniosynostosis is characterized by anterior-posterior expansion of the skull?

    <p>Dolicocephaly/Scaphocephaly</p> Signup and view all the answers

    The condition called __________ results from premature fusion of skull sutures.

    <p>Craniosynostosis</p> Signup and view all the answers

    Apert syndrome is associated with a tower-shaped skull and low IQ.

    <p>True</p> Signup and view all the answers

    Match the following genetic syndromes with their characteristics:

    <p>Sotos syndrome = Cerebral gigantism Fragile X syndrome = CGG trinucleotide repeats Tay-Sach's = Hexosaminidase A deficiency Sandhoff = Hexosaminidase A &amp; B deficiency</p> Signup and view all the answers

    What is the primary characteristic of plagiocephaly?

    <p>One side of the head appears flat.</p> Signup and view all the answers

    Crouzon syndrome inherits in a(n) ______ manner.

    <p>autosomal dominant</p> Signup and view all the answers

    Match the craniosynostosis conditions to their features:

    <p>Brachycephaly = Transverse elongation Plagiocephaly = Normal side appears flat Trigonocephaly = Unilateral elongation in anterior aspect Oxycephaly = Irregular shape of skull</p> Signup and view all the answers

    What classification indicates short stature in children?

    <p>Height for age &lt; 3rd percentile</p> Signup and view all the answers

    A child with a height for age at the 5th percentile is classified as having short stature.

    <p>False</p> Signup and view all the answers

    What percentile must a child's height for age be below to be considered short stature?

    <p>3rd percentile</p> Signup and view all the answers

    Short stature is characterized by a height for age below the ___ percentile.

    <p>3rd</p> Signup and view all the answers

    Match the following terms related to stature with their definitions:

    <p>Short Stature = Height for age &lt; 3rd percentile Average Stature = Height for age between 3rd and 97th percentile Tall Stature = Height for age &gt; 97th percentile</p> Signup and view all the answers

    At what age does a child typically begin to wave bye-bye?

    <p>9 months</p> Signup and view all the answers

    Objects are understood to be permanent by 4 years of age.

    <p>True</p> Signup and view all the answers

    What is the primary social milestone attained by 2 months of age?

    <p>Social smile</p> Signup and view all the answers

    At _____ months, infants start to imitate the actions of adults.

    <p>18</p> Signup and view all the answers

    Match the following ages with their corresponding visual responses:

    <p>Newborn = Follows objects up to 45° 1 month = Follows objects up to 90° 3 months = Follows objects up to 180° 4 months = Fully established binocular vision</p> Signup and view all the answers

    Which of the following is a common facial characteristic of Fetal Alcohol Syndrome?

    <p>Smooth philtrum</p> Signup and view all the answers

    Microcephaly can occur due to exposure to Phenytoin.

    <p>True</p> Signup and view all the answers

    What genetic defect is associated with Rett Syndrome?

    <p>MECP-2 gene defect</p> Signup and view all the answers

    Hydrocephalus is an etiology of macrocephaly due to excess _____ in the brain.

    <p>fluid</p> Signup and view all the answers

    At what age does an infant typically lift their head above the level of their body when in a ventral suspension?

    <p>3 months</p> Signup and view all the answers

    Match the syndrome with its characteristic feature:

    <p>Angelman Syndrome = Associated with intellectual disability and happy demeanor Seckel Syndrome = Bird-like face with beak-like nose Rett Syndrome = Developmental regression with hand movements Fetal Alcohol Syndrome = Small eyes and thin upper lip</p> Signup and view all the answers

    A newborn's head and limbs show control when placed in a ventral suspension.

    <p>False</p> Signup and view all the answers

    What is the position of an infant's legs during the newborn to 2-week stage in a prone position?

    <p>Folded, kept beneath abdomen</p> Signup and view all the answers

    At 4-6 weeks, an infant's pelvis is ___________ compared to the rest of their body.

    <p>in level</p> Signup and view all the answers

    Match the age range with the corresponding infant response in a prone position:

    <p>Newborn - 2 weeks = Legs folded beneath abdomen 4-6 weeks = Pelvis level with rest of body 3 months = Head lifted and elbows flexed 6 months = Weight borne on extended limbs</p> Signup and view all the answers

    At what age does a child typically sit without support and begin to crawl?

    <p>8 months</p> Signup and view all the answers

    A 4-year-old child should be able to perform a mature pincer grasp.

    <p>False</p> Signup and view all the answers

    What gross motor milestone is typically achieved by a child at the age of 15 months?

    <p>Walks without support</p> Signup and view all the answers

    The direction of gross motor development follows a __________ pattern.

    <p>cephalo-caudal</p> Signup and view all the answers

    Match the age ranges with the corresponding fine motor milestone:

    <p>0-3 months = No fine motor milestone (Neonatal palmar grasp reflex) 4 months = Bidextrous grasp 6 months = Unidextrous grasp: immature palmar grasp 12 months = Mature pincer grasp</p> Signup and view all the answers

    At what age can a child typically draw a circle?

    <p>3 years</p> Signup and view all the answers

    A 5-year-old child can dress and undress without help.

    <p>True</p> Signup and view all the answers

    What milestone can a child achieve by 15 months of age in play involving cubes?

    <p>Makes a tower of 2 cubes</p> Signup and view all the answers

    At 4.5 years, a child can draw a _________.

    <p>square</p> Signup and view all the answers

    Match the age to the corresponding language milestone:

    <p>3 months = Cooing (musical) sound 9 months = Bi-syllables (mama, papa) 1 year = 1-2 meaningful words 4 years = Tells story and rhymes</p> Signup and view all the answers

    What is the formula used to calculate Mid Parental Height (MPH) for boys?

    <p>(mother's height + father's height)/2 + 6.5 cm</p> Signup and view all the answers

    A higher Upper segment to Lower segment (US: LS) ratio indicates that the lower segment is longer.

    <p>False</p> Signup and view all the answers

    What does a bone age (BA) that is greater than chronological age (CA) indicate?

    <p>Precocious puberty</p> Signup and view all the answers

    The upper segment is defined as the height of the __________.

    <p>trunk</p> Signup and view all the answers

    Match the following age ranges with their corresponding X-ray site for evaluating bone age:

    <p>Infancy = Left wrist (carpal bones) 1-13 years = Shoulder</p> Signup and view all the answers

    Study Notes

    Thick Skull

    • Thick skull is a feature of certain conditions that involve extramedullary hematopoiesis, achondroplasia, and osteopetrosis.
    • Extramedullary hematopoiesis is the production of blood cells outside of the bone marrow, and it can be seen in conditions like β-thalassemia major.
    • Achondroplasia is a genetic disorder affecting bone growth, resulting in disproportionate dwarfism.
    • Osteopetrosis is a group of rare genetic bone disorders causing increased bone density and fragility.

    Increased Brain Volume: Megalencephaly

    • Lysosomal disorders are a group of metabolic disorders that can lead to megalencephaly.

    Mucopolysaccharoidoisis

    • Tay-Sachs is a lysosomal disorder caused by a deficiency in the enzyme hexosaminidase A.
    • This deficiency leads to an accumulation of lipids in the brain, causing progressive neurological damage.
    • Individuals with Tay-Sachs often have a characteristic cherry-red spot in the macula, the central part of the retina, and do not have hepatosplenomegaly.

    Leukodystophies

    • Alexander disease is a rare genetic disorder affecting the myelin sheath of nerve fibers, causing progressive neurological degeneration.
    • Canavan disease is another rare genetic disorder affecting the brain, mainly the white matter, causing progressive neurological deterioration.

    Genetic Syndromes

    • Sotos syndrome, also known as cerebral gigantism, is a genetic disorder causing overgrowth, particularly of the head and brain.
    • Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the growth of tumors along the nerves.

    Gma gangliosidoses

    • Sandhoff disease is a lysosomal disorder caused by a deficiency in both hexosaminidase A and B enzymes.
    • Like Tay-Sachs, it leads to an accumulation of lipids in the brain, causing progressive neurological damage.
    • Individuals with Sandhoff disease often have a cherry-red spot in the macula and exhibit hepatosplenomegaly, which is an enlarged liver and spleen.

    Fragile X syndrome

    • Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene, caused by a CGG trinucleotide repeat expansion.
    • It is characterized by intellectual disability, developmental delays, and physical features like a long face, large ears, and macroorchidism (enlarged testicles).

    Non-syndromic

    • Familial megalencephaly is the most common type and cause of megalencephaly.

    Craniosynostosis

    • Craniosynostosis is a condition where one or more sutures in the skull fuse prematurely, leading to abnormal head shapes.
    • Synostosis refers to premature fusion of sutures.
    • Sutures are the fibrous joints that connect the bones of the skull.
    • The metopic suture usually fuses before the age of 2 years.
    • The coronal, sagittal, and lambdoid sutures are other important skull sutures.

    Rule of Suture Fusion

    • Premature fusion of a suture arrests skull growth perpendicular to the suture line.
    • Skull growth occurs parallel to the fused suture.

    Algorithmic Approach to Short Stature

    • Normal Growth Velocity: The bone age (BA) is similar to the child's chronological age (CA)
    • Delayed BA: The bone age is significantly behind the chronological age (CA).
    • Abnormal Growth Velocity: The upper segment to lower segment ratio (US:LS) is abnormal.
    • Familial Short Stature: Constitutional delay and parental short stature are potential causes.
    • Proportionate Short Stature: This involves a normal US:LS ratio but with abnormal growth velocity. Potential causes include:
      • Growth hormone deficiency
      • Malnutrition
      • Genetic syndromes
    • Abnormal Disproportionate Short Stature: This involves an abnormal US:LS ratio, indicating a disproportionate growth pattern.
      • ↑ US: LS suggests short limbs, potentially caused by achondroplasia, rickets, or congenital hypothyroidism.
      • ↓ US: LS suggests a short trunk, potentially caused by spondyloepiphyseal dysplasia.

    Tall Stature

    • Tall stature is defined as a height for age greater than +2 standard deviations (SD) or the 97th percentile.

    Normal Variant

    • The most common cause of tall stature is familial, meaning it runs in the family.
    • Constitutional acceleration of growth (CAG) is a normal variant where growth is naturally faster.

    Pathological Causes

    • Syndromes:
      • Marfan syndrome: Characterized by superior lens dislocation, a tall and slender build, and other skeletal abnormalities.
      • Klinefelter's syndrome: A genetic condition affecting males, characterized by an extra X chromosome.
      • Overgrowth/cerebral gigantism: Sotos syndrome, characterized by excessive growth, particularly of the head.
    • Metabolic Disorder:
      • Homocystinuria: Caused by a deficiency in the enzyme cystathionine-β synthase. It leads to Marfan-like features and inferior lens dislocation.
    • Endocrine:
      • Pituitary adenoma: A tumor in the pituitary gland, causing excessive growth hormone (GH) secretion.
      • Hyperthyroidism: An overactive thyroid gland can also lead to increased growth.

    Abnormalities of Head Size & Shape

    • 1. Dolicocephaly/Scaphocephaly: The most common type of craniosynostosis, involving premature closure of the sagittal suture. This results in a long and narrow head shape, with an elongated skull in an anterior-posterior direction.
    • 2. Brachycephaly: A condition where the sagittal suture fuses prematurely, resulting in a short and wide head shape with transverse elongation. Fusion of the coronal suture can also contribute to brachycephaly.
    • 3. Plagiocephaly: One side of the head appears flat, often due to premature fusion of the coronal or lambdoid sutures.
    • 4. Trigonocephaly: Premature fusion of the metopic suture, leading to a triangular shape of the forehead, with a pointed appearance due to the fusion of the metopic suture.
    • 5. Oxycephaly/Turricephaly: A rare condition characterized by premature closure of multiple sutures, leading to a tower-shaped skull with an irregularly shaped head.

    Associated Genetic Syndromes

    Condition Inheritance Craniosynostosis Features IQ
    Crouzon syndrome Autosomal dominant Brachycephaly Exophthalmos, Hypertelorism, maxillary hypoplasia Normal
    Apert syndrome Autosomal dominant Turricephaly (Tower shaped skull) Exophthalmos (Not prominent), Syndactyly (fused fingers), mitten hand deformity Low
    • Carpenter syndrome is a rare condition associated with craniosynostosis, similar to Apert syndrome, but also includes obesity and hypogonadism.

    Abnormalities of Stature

    Short Stature

    • Height for age < 3rd percentile.
    • Mid Parental Height (MPH): Calculation of the target height for a child based on the heights of the parents.
      • MPH = (mother's height + father's height)/2 + 6.5 cm (boys) - 6.5 cm (girls)
    • Assessment of Body Proportion: The upper to lower segment ratio (US:LS) refers to the proportion between the height of the trunk (upper segment) and the height or length of the limbs (lower segment), indicating how well the child is growing. This ratio is useful for determining whether the child is growing disproportionately.
      • Normal Values:
        • At birth: 17:1
        • 3 years: 1.3:1
        • 10 years: 1:1
        • Adults: 0.9:1
    • Abnormalities in US:LS ratio:
      • ↑ US: LS - Suggests short limbs, potentially caused by achondroplasia, rickets, or congenital hypothyroidism.
      • ↓ US: LS - Suggests a short trunk, potentially caused by conditions like spondyloepiphyseal dysplasia.
    • Bone Age: Evaluated using X-ray of the left wrist, which reveals the development of the ossification centers in the carpal bones.
      • Bone age (BA) < Chronological age (CA) - Common in short stature.
      • BA = CA - Suggests familial short stature.
      • BA > CA - Suggests precocious puberty.
    • Normal Variant of Short Stature:
      • Constitutional Delay: A normal final height with delayed puberty.
      • Familial Short Stature: Short final height with a normal age at puberty but also short parental height.

    Social Milestones

    • Social milestones mark important stages in a child's social development.
    • These are usually observed in combination with other developmental milestones and depend on the child's interaction and engagement with others.

    Social Milestones

    Age Social Milestone Attained
    2 months Social smile
    3 months Mother regard (Demonstrates focus on the mother)
    6 months Stranger anxiety, smiles at mirror image
    9 months Waves bye-bye, plays "peek a boo"
    1 year Plays simple ball game
    15 months Points to objects
    18 months Domestic mimicry (imitates actions of adults)
    2.5-3 years Parallel play (Non-interactive)
    4 years Group play (Interactive play)
    5 years Follows 3 step commands, Identifies 4 colors, Repeats 4 digits

    Miscellaneous Milestones

    Milestone Attained Description Features
    Mouthing Puts objects/hand in mouth. Seen till 18 months-2 years.
    Casting Deliberate throwing of objects Starts around 9 months
    Object permanence Feeling that a missing object is present though not seen in the field of vision Starts by 3 years and firmly established at 4 years (3 months - 5 years -> Developmental delay).
    Handedness Preference of one hand over the other.
    Hand regard Plays with own hands

    Range of Vision

    Age Response
    Newborn Follows objects upto 45°
    1 month Follows objects upto 90°
    3 month Follows objects upto 180°
    4 month Fully established binocular vision

    Localization of Sound (Hearing)

    Age Response
    Newborn Startles in response to sound
    4 months Horizontal localization of sound
    6 months Downward localization of sound
    7 months Upward localization of sound
    10 months Diagonal localization of sound
    • Localization of sound is indicated by turning the head toward the sound source, assessed using Murphy's sequence.

    Microcephaly D/T Teratogens

    • 1. Fetal Alcohol Syndrome:

      • Facial Characteristics: Small eyes, smooth philtrum (the groove between the base of the nose and the upper lip), and thin upper lip.
      • Commonly associated with ventricular septal defect (a hole in the wall separating the heart's ventricles).

    • 2. Phenytoin (Diphenyl hydantoin) Exposure: Can lead to microcephaly.

    Late Onset/Acquired Syndromes

    • 1. Rett Syndrome:

      • X-linked dominant inheritance.
      • MECP-2 gene defect.
      • Normal head size initially, followed by microcephaly after 1 year.
      • Features: Abnormal midline hand movements, developmental regression (loss of previously acquired milestones), hand wringing stereotypic movements, speech defects, and progressive ataxia (loss of coordination) leading to wheelchair dependency by adolescence.

    • 2. Seckel Syndrome: Characterized by a bird-like face with a beak-like nose.

    • 3. Angelman Syndrome: A genetic disorder characterized by developmental delays, distinctive facial features, and a happy demeanor.

    Macrocephaly

    • Definition: HC (head circumference) for age > +2 SD.
    • Etiology:
      • Fluid in the brain: Hydrocephalus.
      • Hydranencephaly: Complete replacement of brain tissue with fluids.
      • Transillumination: Positive, indicating fluid in the brain.

    Normal Development

    • 4 domains of developmental milestones:
      • Gross motor
      • Fine motor
      • Language
      • Social

    Gross motor and Fine milestones

    • Gross motor:

      • Rule: Direction of development → Cephalo-caudal (from head to tail). | Age | Milestone attained | |---|---| | 3 months | Head control/Neck holding | | 4-6 months | Rolls over(trunk control+) | | 6 months | Sits with support: Tripod posture | | 8 months | Sits without support, crawling | | 10 months | Stands with support, creeping | | 11 months | Cruising | | 12 months | Stands without support, walks with support | | 15 months | Walks without support (independently) | | 18 months | Runs | | 2 years | Climbs with feet/step holding side rails | | 3 years | Climbs upstairs with 1 foot/step, rides tricycle | | 4 years | Climbs downstairs with 1 foot/step, hops |

    • Fine motor:

      • Grasping: | Age | Milestone attained | |---|---| | 0-3 months | No fine motor milestone (Neonatal palmar grasp reflex + closed hands).| | 4 months | Bidextrous grasp (Reaches for objects with both hands.) | | 6 months | * Unidextrous grasp: ulnar (Immature) palmar grasp * Transfer objects from one hand to another. | | 8 months | Unidextrous grasp: mature (Radial) palmar grasp | | 9 months | Immature pincer grasp (Hold with sides of fingers) | | 12 months | Immature pincer grasp: mature pincer grasp (Holds with tip of fingers) | | | Scribbles |

    Other Information

    • Tripod position: 6 months
    • Cruising: 11 months
    • Crawling: 8 months
    • Creeping: 10 months
    • Hopping: 4 years

    Pull to Sit Maneuver

    • Ventral Suspension: | Age | Response to ventral suspension | |---|---| | Newborn | Head and limbs drop down (no control).| | 2 months | Head at level with rest of body.| | 3 months | Head is lifted above the level of body.|

    • In Prone Position: | Age | Description | |---|---| | Newborn - 2 weeks | Legs: Folded, kept beneath abdomen.Pelvis: Lifted compared to rest of body.| | 4-6 weeks | Legs: Straighten Pelvis: In level with rest of body (baby lies flat).| | 3 months | Head lifted up.Elbow flexed/bent.Bears weight on forearm.| | 6 months | Head lifted up.Elbow straight (in extension).Bearing weight on extended limbs.|

    Tower of Cubes

    Age Milestone Attained
    15 months Makes a tower of 2 cubes
    18 months Makes tower of 3 cubes
    2 years Makes tower of 6 cubes
    3 years Makes tower of 9 cubes

    Dressing and Undressing

    Age Milestone Attained
    2 years Undresses with help
    3 years Dresses with help
    5 years Dresses and undresses without help

    Drawing

    Age Milestone Attained (Mnemonic: LOX-STD)
    2 years Draws line (Horizontal line: 18m - 2y, Vertical line: 2-2.5y)
    3 years Draws circle(0)
    4 years Draws cross/plus(x)
    4.5 years Draws square(□)
    5 years Draws triangle(△)
    6-7 years Draws diamond/rhomboid(◇)

    Language and Social Milestones

    Language Milestones

    Age Language Milestone Attained
    3 months Cooing (musical) sound
    4 months Laughs aloud
    6 months Monosyllables (ma, pa)
    9 months Bi-syllables (mama, papa)
    1 year 1-2 meaningful words
    15 months Jargon speech (meaningless words - temporary milestone for 1-2 months)
    18 months 8-10 meaningful words
    2 years 100 words, speaks in sentences
    3 years Recognizes and tells name, age and gender.
    4 years Tells story and rhymes

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