Fetal Skeletal Dysplasia

📝 Fetal 1 🧾 Early First Trimester (GS) 2 🧾First Trimester (embryo 6-10w 6d) 3 🧾 First Trimester (11-13w 6d) 4 🧾 Second Trimester 5 🧾 Third Trimester 6 🧾 NT Screening 7 🧾 NT Screening Specific Dopler 8 🧾 Fetal Anomalies Screening / TIFA 9 🧾 TIFA-Specific Fetal Doppler 10 🧾 Doppler Studies 11 🧾 Biophysical Profile / NST 12 🧾 RMT Assessment 📝 Other Findings 1 🧾 Hydrops fetalis or water baby 2 🧾 Conjoined twins 3 🧾 Genetic Abnormalities and Syndromes 4 🧾 Umbilical cord 5 🧾 Placenta 6 🧾 Amniotic fluid 7 🧾 Fetal face 8 🧾 Fetal neck 9 🧾 Central Nervous System 10 🧾 Neural Tube Defects 11 🧾 Cardiac Anomalies 12 🧾 Thorax 13 🧾 Gastrointestinal Abnormalities 14 🧾 Genitourinary Abnormalities 15 🧾 Skeletal Dysplasia 16 🧾 Congenital Infections 17 🧾 Fetal Case Study

Diagnos

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1. FETAL SKELETAL DYSPLASIA – CORE ASSESSMENT

📄 Disproportionate Short Stature Suspected

📄 Normal Skeletal Growth Pattern

📄 Lethal vs Non-Lethal Dysplasia Pattern

📄 Symmetrical vs Asymmetrical Limb Involvement

2. LIMB LENGTH & PROPORTIONS

📄 Rhizomelia (Proximal Limb Shortening)

📄 Mesomelia (Middle Segment Shortening)

📄 Acromelia (Distal Limb Shortening)

📄 Micromelia (Severe Global Limb Shortening)

📄 Isolated Short Long Bones

3. LONG BONE MORPHOLOGY

📄 Bowed Long Bones

📄 Fractures of Long Bones

📄 Angulated Long Bones

📄 Dumbbell-Shaped Bones

📄 Thickened or Thin Long Bones

4. THORAX & RIBS

📄 Narrow Thorax

📄 Bell-Shaped Thorax

📄 Short Ribs

📄 Rib Fractures

📄 Thoracic Hypoplasia (Lethal Indicator)

5. SKULL & FACIAL FINDINGS

📄 Macrocephaly

📄 Microcephaly

📄 Frontal Bossing

📄 Cloverleaf Skull (Kleeblattschädel)

📄 Depressed Nasal Bridge

6. HANDS & FEET

📄 Polydactyly

📄 Syndactyly

📄 Brachydactyly

📄 Clinodactyly

📄 Trident Hand

7. SPINE

📄 Platyspondyly

📄 Hemivertebrae

📄 Scoliosis

📄 Kyphosis

8. BONE MINERALIZATION

📄 Normal Ossification

📄 Hypomineralization

📄 Poor Skull Ossification (Compressible Skull)

9. ASSOCIATED FINDINGS

📄 Polyhydramnios

📄 Hydrops Fetalis

📄 Pulmonary Hypoplasia

📄 Cardiac or Renal Anomalies

10. COMMON SKELETAL DYSPLASIA DIAGNOSES

📄 Thanatophoric Dysplasia

📄 Achondroplasia

📄 Osteogenesis Imperfecta (Type II / III)

📄 Campomelic Dysplasia

📄 Short Rib–Polydactyly Syndrome

11. GENETIC TESTING & COUNSELING

📄 NIPT / Screening Inconclusive

📄 Invasive Testing Recommended (CVS / Amniocentesis)

📄 Targeted Gene Panel (FGFR3, COL1A1/2)

📄 Whole Exome Sequencing

📄 Genetic Counseling Advised

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