Pictorial representation of patau and edward for neet pg

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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)

Edwards Syndrome - Trisomy 18 - annotated diagram showing prominent occiput, intellectual disability, micrognathia, low set ears, short neck, overlapping fingers, congenital heart defects, renal malformations, limited hip abduction, rocker-bottom feet
Fig. 4.19 - Robbins & Kumar Basic Pathology: Clinical features of Trisomy 18 (Edwards Syndrome)

Clinical Photo (Langman's Medical Embryology)

Trisomy 18 newborn - note low-set ears, small mouth, micrognathia, flexion of hands
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)

FeatureDetail
HeadMicrocephaly, prominent occiput
FaceMicrognathia, low-set ears
HandsClenched fists with overlapping fingers (index over 3rd, 5th over 4th) - classic!
FeetRocker-bottom feet
HeartCongenital heart defects (>90%) - VSD most common
RenalRenal malformations, horseshoe kidney
OtherLimited 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)

Patau Syndrome - Trisomy 13 - annotated diagram showing microcephaly, intellectual disability, microphthalmia, polydactyly, cleft lip and palate, cardiac defects, umbilical hernia, renal defects, rocker-bottom feet
Fig. 5.22 - Robbins Cotran Pathologic Basis of Disease: Clinical features of Trisomy 13 (Patau Syndrome)

Clinical Photo - Facial Features (Langman's Medical Embryology)

Trisomy 13 - child showing bilateral cleft lip, sloping forehead, anophthalmia
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)

FeatureDetail
BrainHoloprosencephaly (failure of forebrain to divide) - pathognomonic
EyesMicrophthalmia / anophthalmia / coloboma
FaceCleft lip + palate (bilateral, severe), broad/flat nose, sloping forehead
HandsPostaxial polydactyly (extra fingers on ulnar/little finger side)
ScalpCutis aplasia (scalp defect) - unique to Patau
HeartCardiac defects (>90%)
AbdomenUmbilical hernia / exomphalos
RenalRenal defects (polycystic kidneys)
HearingDeafness
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

FeatureTrisomy 18 (Edwards)Trisomy 13 (Patau)
Chromosome+18+13
Incidence1 in 8,0001 in 15,000-20,000
Brain defectMicrocephalyHoloprosencephaly
Eye defect-Micro/anophthalmia, coloboma
FaceMicrognathia, low-set earsCleft lip + palate, broad nose
HandsClenched/overlapping fingersPostaxial polydactyly
FeetRocker-bottom feetRocker-bottom feet (both)
Scalp-Cutis aplasia
Cardiac>90%>90%
RenalHorseshoe/malformedPolycystic
PrognosisDie by 2 months (mostly)Die within 1 month (mostly)
Robertsonian translocationNoYes (10% of cases, chr 13;14)
Maternal age effectYesYes

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.
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