3 M Syndrome.pptx
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3 M Syndrome is characterized by three main features: short stature from prenatal onset, distinctive facial features including a large head and triangular face, and musculoskeletal anomalies such as a short broad neck and joint hypermobility. Affected individuals also commonly have genitourinary issues in males like hypogonadism. Radiographic findings include slender long bones and vertebral anomalies like wedging of the thoracic vertebrae. Intelligence is usually unaffected.
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14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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- 1. 3 M Syndrome
- 2. Clinical features • Short stature of prenatal onset. Typical height is -5.0 SDS • Facial features. Relatively large head, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, full lips, and pointed chin. Facial appearance varies among affected individuals • Musculoskeletal features. Short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, thoracic kyphoscoliosis, hyperlordosis, spina bifida occulta, clinodactyly of the fifth fingers, generalized or isolated joint hypermobility, prominent heels, and pes planus • Genitourinary anomalies in males. Hypogonadism and hypospadias • Intelligence. Usually unaffected
- 3. Radiographic features • Long bones are slender with diaphyseal constriction and flared metaphyses. The femoral necks can be short. • Vertebral bodies are tall with reduced anterior-posterior and transverse diameter (especially in the lumbar region), anterior wedging of the thoracic vertebral bodies, and irregular upper and lower endplates; thoracic kyphoscoliosis; spina bifida occulta. • Thorax is relatively broad with slender, horizontal ribs. • Pelvic bones are small, especially the pubis and the ischium. The iliac wings are flared and the obturator foramina are small, although the latter may be positional. • Bone age is slightly delayed. There is a high metacarpal index. • Other findings include dolichocephaly, flattened coronal suture, narrowed intraorbital distance, elbow dysplasia, shortened ulna, pseudoepiphyses of the second metacarpal bone, dislocated hips, and prominent talus.