🏥 Stations

🧠 Qbank

📖 Book

😃 More

💳 Pricing

🔒 Dashboard

📖 OSCE Learning

🔒 OSCE Stations

🔒 Qbank

🔐 Membership
Share your insights

Help us by sharing what content you've recieved in your exams


Dysmorphic child

Specialties > Child health

Differential Diagnosis Schema 🧠

Chromosomal Disorders

  • Down syndrome (Trisomy 21): Characteristic facial features (e.g., flat nasal bridge, epicanthal folds), single palmar crease, intellectual disability
  • Turner syndrome (45,X): Short stature, webbed neck, widely spaced nipples, lymphedema of hands and feet
  • Klinefelter syndrome (47,XXY): Tall stature, gynecomastia, small testes, often diagnosed during puberty
  • Edward syndrome (Trisomy 18): Severe intellectual disability, micrognathia, clenched hands with overlapping fingers
  • Patau syndrome (Trisomy 13): Severe intellectual disability, cleft lip/palate, polydactyly, holoprosencephaly

Genetic Syndromes

  • Noonan syndrome: Short stature, webbed neck, pectus excavatum, congenital heart defects (e.g., pulmonary stenosis)
  • Williams syndrome: Elfin facies, supravalvular aortic stenosis, intellectual disability, outgoing personality
  • Marfan syndrome: Tall stature, long limbs, hypermobile joints, lens dislocation, aortic root dilatation
  • Fragile X syndrome: Intellectual disability, macroorchidism, large ears, prominent jaw, hyperactivity
  • Prader-Willi syndrome: Hypotonia, obesity, hypogonadism, intellectual disability, hyperphagia
  • Angelman syndrome: Severe intellectual disability, frequent laughter, ataxia, seizures

Teratogenic and Environmental Causes

  • Fetal alcohol syndrome: Microcephaly, smooth philtrum, thin upper lip, intellectual disability
  • Congenital infections (e.g., TORCH): Growth restriction, microcephaly, hepatosplenomegaly, chorioretinitis
  • Maternal diabetes: Macrosomia, cardiac defects, caudal regression syndrome
  • Thalidomide embryopathy: Limb defects (phocomelia), ear malformations
  • Warfarin embryopathy: Nasal hypoplasia, stippled epiphyses, developmental delay

Key Points in History 🥼

Pregnancy and Birth History

  • Maternal age: Advanced maternal age increases the risk of chromosomal abnormalities
  • Prenatal screening and diagnostic tests: Results of nuchal translucency, amniocentesis, or chorionic villus sampling
  • Exposure to teratogens: History of alcohol, drug use, or medication exposure during pregnancy
  • Intrauterine growth: Any evidence of intrauterine growth restriction (IUGR)
  • Birth complications: Consider birth asphyxia or prematurity as contributing factors

Developmental History

  • Milestones: Delays in gross motor, fine motor, speech, and social development may suggest an underlying syndrome
  • Growth patterns: Assess for abnormalities in growth charts, including height, weight, and head circumference
  • Feeding difficulties: Suggestive of syndromes like Prader-Willi or congenital abnormalities
  • Behavioral issues: Hyperactivity, aggression, or frequent laughter may point to specific syndromes like Fragile X or Angelman syndrome

Background

  • Family history: Consider any known genetic conditions or consanguinity that might suggest autosomal recessive disorders
  • Previous children with congenital anomalies: Increases the likelihood of recurrence in future pregnancies
  • Social history: Consider the impact on family dynamics, parental coping mechanisms, and need for genetic counseling
  • Drug history: Consider any maternal medication that could have teratogenic effects

Possible Investigations 🌡️

Genetic Testing

  • Karyotyping: To identify chromosomal abnormalities such as Trisomies or Turner syndrome
  • FISH analysis: Used to detect microdeletions and specific genetic syndromes (e.g., Williams syndrome)
  • Array CGH: High-resolution technique for detecting submicroscopic chromosomal abnormalities
  • Specific gene testing: For conditions like Marfan syndrome, Fragile X syndrome, and others

Imaging and Specialist Tests

  • Echocardiogram: Essential for assessing congenital heart defects in syndromes like Noonan or Down syndrome
  • MRI brain: Useful for identifying structural brain abnormalities in cases of suspected genetic syndromes
  • Renal ultrasound: To detect congenital renal anomalies associated with genetic syndromes
  • Ophthalmologic and hearing assessments: To identify sensory impairments commonly associated with genetic conditions

No comments yet 😉

Leave a Reply

Child health