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The first 25 slides, exactly as they appear. The full deck has 46 content slides.
Radiology
Skeletal Ciliopathies (Short-Rib Polydactyly Syndromes)
Built from Obstetric Imaging
What’s inside
6 sections · 46 slides
Overview
- What this deck covers
The disorder in one picture
Short ribs, short limbs, extra digits
- A chest too small for the lungs
- The names you will meet
- One picture, many different genes
- The four historical types
- Why those four types no longer decide care
- The wider family of skeletal ciliopathies
- How the diagnosis is defined
- 1 in 100,000
- Reading those numbers
The cilium: the cell's antenna
One broken organelle, a whole skeleton affected
- What a cilium is and how it is built
- Signal receivers sitting on the cilium
- What the cilium actually does
- The genes behind the disorder
- Same gene, very different babies
- Two healthy carriers, one child in four affected
- What autosomal recessive means for a family
- From faulty gene to breathless newborn
What the scan shows
Ribs, limbs, digits and the organs behind them
- When to suspect it on ultrasound
- The four classic signs
- Long narrow chest with short straight ribs
- What to notice in the chest view
- Very short forearm bones with bowing
- Extra digit on the fetal hand
- What polydactyly means
- Six digits on a hand radiograph
- Fluid building up in the fetal abdomen
- Why 3D and 4D ultrasound help
- Where MRI and CT fit
- After birth: X-rays and gene tests
Beyond the skeleton
Why a bone disease damages eyes, kidneys and liver
- One faulty organelle, many organs
- Associated abnormalities: head and heart
- Associated abnormalities: abdomen and genitals
- The milder end: Jeune syndrome
- What long-term survivors face
- Two ends of the same spectrum
- Differential diagnosis on imaging
Counselling and care
From a suspicious scan to a plan the family owns
- The care pathway
- Management before birth
- Care after birth
- What the referring clinician needs to know
- Handover points for the family
- Key points
- References
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition