I now have all the images I need. I can see that the two Robbins diagrams showing labeled Edwards syndrome features are very similar (from Robbins Basic Pathology and Robbins Cotran). Let me now compile a comprehensive, well-illustrated answer for NEET PG.
Patau Syndrome (Trisomy 13) & Edwards Syndrome (Trisomy 18) - NEET PG
EDWARDS SYNDROME - Trisomy 18
Karyotype: 47,XX,+18 (trisomy type) | 46,XX/47,XX,+18 (mosaic)
Incidence: 1 in 8,000 births | Prognosis: 85% lost between 10 weeks and term; born-alive babies usually die by 2 months; ~5% live beyond 1 year
Annotated Diagram (Robbins Pathology)
Fig. 4.19 - Robbins & Kumar Basic Pathology: Clinical features of Trisomy 18 (Edwards Syndrome)
Clinical Photo (Langman's Medical Embryology)
FIGURE 2.10 - Langman's: Child with trisomy 18. Note low-set ears, small mouth, micrognathia, flexion of the hands.
Key Features to Remember (NEET PG High-Yield)
| Feature | Detail |
|---|
| Head | Microcephaly, prominent occiput |
| Face | Micrognathia, low-set ears |
| Hands | Clenched fists with overlapping fingers (index over 3rd, 5th over 4th) - classic! |
| Feet | Rocker-bottom feet |
| Heart | Congenital heart defects (>90%) - VSD most common |
| Renal | Renal malformations, horseshoe kidney |
| Other | Limited hip abduction, hypotonia |
NEET PG Mnemonic for Trisomy 18: "18-Wheeler (truck) ROCKS on rocker-bottom feet with CLENCHED fists" - Rocker-bottom feet + overlapping/clenched fingers are the two most tested features.
PATAU SYNDROME - Trisomy 13
Karyotype: 47,XX,+13 (trisomy) | 46,XX,+13,der(13;14)(q10;q10) (Robertsonian translocation - ~10% of cases) | 46,XX/47,XX,+13 (mosaic)
Incidence: 1 in 15,000-20,000 live births | Prognosis: >90% die within the first month; ~5% live beyond 1 year
Annotated Diagram (Robbins Pathology)
Fig. 5.22 - Robbins Cotran Pathologic Basis of Disease: Clinical features of Trisomy 13 (Patau Syndrome)
Clinical Photo - Facial Features (Langman's Medical Embryology)
FIGURE 2.11 - Langman's: Child with trisomy 13 showing bilateral cleft lip, sloping forehead, and anophthalmia.
Key Features to Remember (NEET PG High-Yield)
| Feature | Detail |
|---|
| Brain | Holoprosencephaly (failure of forebrain to divide) - pathognomonic |
| Eyes | Microphthalmia / anophthalmia / coloboma |
| Face | Cleft lip + palate (bilateral, severe), broad/flat nose, sloping forehead |
| Hands | Postaxial polydactyly (extra fingers on ulnar/little finger side) |
| Scalp | Cutis aplasia (scalp defect) - unique to Patau |
| Heart | Cardiac defects (>90%) |
| Abdomen | Umbilical hernia / exomphalos |
| Renal | Renal defects (polycystic kidneys) |
| Hearing | Deafness |
NEET PG Mnemonic for Trisomy 13: "13 is unlucky - POLYDACTYLY, HOLOPROSENCEPHALY, CLEFT LIP" - The triad of holoprosencephaly + cleft lip/palate + postaxial polydactyly is classic for Trisomy 13.
Quick Comparison Table - NEET PG High-Yield
| Feature | Trisomy 18 (Edwards) | Trisomy 13 (Patau) |
|---|
| Chromosome | +18 | +13 |
| Incidence | 1 in 8,000 | 1 in 15,000-20,000 |
| Brain defect | Microcephaly | Holoprosencephaly |
| Eye defect | - | Micro/anophthalmia, coloboma |
| Face | Micrognathia, low-set ears | Cleft lip + palate, broad nose |
| Hands | Clenched/overlapping fingers | Postaxial polydactyly |
| Feet | Rocker-bottom feet | Rocker-bottom feet (both) |
| Scalp | - | Cutis aplasia |
| Cardiac | >90% | >90% |
| Renal | Horseshoe/malformed | Polycystic |
| Prognosis | Die by 2 months (mostly) | Die within 1 month (mostly) |
| Robertsonian translocation | No | Yes (10% of cases, chr 13;14) |
| Maternal age effect | Yes | Yes |
Sources: Robbins & Kumar Basic Pathology (Fig. 4.19), Robbins Cotran Pathologic Basis of Disease (Fig. 5.22), Langman's Medical Embryology (Figs. 2.10, 2.11), Emery's Elements of Medical Genetics and Genomics.