Makindo Medical Notes

Clinical History

1. Antenatal History:
   • Maternal age and health during pregnancy
   • Exposure to teratogens (e.g., medications, alcohol, smoking)
   • Infections during pregnancy (e.g., rubella, CMV)
   • Complications like gestational diabetes or preeclampsia
2. Family History:
   • Genetic or chromosomal disorders in family members
   • History of congenital abnormalities in siblings or close relatives
   • Consanguinity
3. Birth History:
   • Gestational age at birth (preterm, term, or post-term)
   • Mode of delivery and any complications (e.g., emergency caesarean)
   • Birth weight and APGAR scores
4. Developmental Milestones: Evaluate milestones in motor, language, and social skills to assess for developmental delays.
5. Presenting Symptoms: Specific symptoms or abnormalities noted by parents or caregivers (e.g., unusual facial features, limb deformities).

Physical Examination

1. General Inspection: Observe for dysmorphic features, asymmetry, or unusual appearance.
2. Head and Neck Examination:
   • Head shape and size (macrocephaly, microcephaly)
   • Facial features (e.g., low-set ears, cleft lip/palate)
   • Neck for webbing or shortness
3. Chest Examination: Check for abnormal chest shape or asymmetry, and listen for heart murmurs.
4. Abdominal Examination: Palpate for organomegaly, abdominal wall defects, or umbilical abnormalities.
5. Limb Examination:
   • Check for limb abnormalities (e.g., polydactyly, syndactyly)
   • Assess joint range of motion and any deformities
6. Neurological Examination: Assess reflexes, muscle tone, and symmetry of movements.
7. Genitourinary Examination: Look for genital abnormalities (e.g., ambiguous genitalia, hypospadias).

Investigations

1. Genetic Testing:
   • Karyotyping for chromosomal abnormalities (e.g., Down syndrome)
   • Specific genetic panels based on suspected syndromes
2. Imaging:
   • Ultrasound for congenital heart defects, renal abnormalities, or brain structure
   • X-rays for skeletal abnormalities or limb deformities
   • CT/MRI as indicated for more detailed anatomical assessment
3. Blood Tests:
   • Metabolic screening for inborn errors of metabolism
   • Thyroid function tests (e.g., in cases of growth or developmental delays)
   • Complete blood count for signs of anaemia or other hematologic issues
4. Additional Screening Tests:
   • Hearing and vision screening
   • Echocardiography if heart abnormalities are suspected

Possible Congenital Abnormalities

• Chromosomal Disorders:
  • Down syndrome (Trisomy 21)
  • Turner syndrome (45, X)
  • Klinefelter syndrome (47, XXY)
• Structural Abnormalities:
  • Congenital heart defects (e.g., ventricular septal defect)
  • Neural tube defects (e.g., spina bifida, anencephaly)
  • Facial abnormalities (e.g., cleft lip and palate)
• Metabolic Disorders:
  • Phenylketonuria (PKU)
  • Maple syrup urine disease
  • Galactosemia
• Musculoskeletal Disorders:
  • Achondroplasia
  • Clubfoot
  • Polydactyly or syndactyly
• Genitourinary Abnormalities:
  • Renal agenesis or dysplasia
  • Hypospadias
  • Ambiguous genitalia

5. Management

1. Multidisciplinary Approach: Referral to specialists such as genetics, cardiology, orthopaedics, or endocrinology as needed.
2. Early Intervention: Physical and occupational therapy, speech therapy, and other developmental support.
3. Genetic Counselling: Offer counselling for family planning and understanding recurrence risks.
4. Symptom Management: Treat specific symptoms, such as surgical correction for anatomical abnormalities or dietary management for metabolic disorders.
5. Psychosocial Support: Provide resources and support groups for families managing long-term care of children with congenital conditions.
6. Follow-Up: Regular check-ups to monitor growth, development, and manage complications over time.