Marfan syndrome
today: Pediatric Cardiologist, Echo Cardiogram found NO evidence of Aortic root dilation, so cleared for surgery for scoliosis, but the EKG was abnormal due to Pectus Excavatum dislocating the heart.
Marfan syndrome
Score of 10:
The scoring system for systemic features involves the following:
Wrist AND thumb sign = 3
Pectus carinatum deformity = 2
Hindfoot deformity = (plain pes planus = 1)
Pneumothorax = 0
Dural ectasia = 0
Protrusio acetabuli = 2
Reduced upper-to-lower segment ratio AND increased arm/
height AND no severe scoliosis = 1
Scoliosis or thoracolumbar kyphosis = 1
Reduced elbow extension = 0
Facial features (three of five including dolichocephaly, enophthalmos,
downslanting palpebral fissures, malar hypoplasia,
and retrognathia) = 0
Skin striae = 0
Myopia >3 diopters = 0 (=2 diopters)
Mitral valve prolapse (all types) = 0
Maximum total: 20 points; score of 7 or more indicates
systemic involvement
Dyplastic Nevi (atypical moles) are unusual benign moles that may resemble melanoma.
Idiopathic scoliosis. Scoliosis is a condition that causes the spine to curve 48 degrees sideways between the shoulder blades and 30 degrees at the lumbar part of the spine.
Kypho-scoliosis is a deformity of the spine characterized by abnormal curvature of the vertebral column in two planes (coronal and sagittal). It is an aggressive (+2 degrees of change a month) combination of kyphosis and scoliosis.
Pectus excavatum, also known as sunken or funnel chest, is a congenital chest wall deformity in which several ribs and the sternum grow abnormally, producing a concave, or caved-in, appearance in the anterior chest wall, applying pressure and displacing the heart. Evidence continues to present that these physiologic impairments may worsen as the patient ages. Data reports improved cardiopulmonary function after repair and marked improvement in psychosocial function. Anatomic abnormalities, including decreased thoracic volume and cardiac compression, are thought to explain the physiologic effects noted by patients.
Pes planus, missing arch. The feet of people with flat feet may roll over to the inner side when they are standing or walking, and the feet may point outwards as a result.
Autism Spectrum disorder requiring support: Asperger Syndrome (AS) is a neuro-biological disorder on the higher-functioning end of the autism spectrum.
Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.
Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.
Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.
Insistence on sameness, inflexible adherence to routines, or ritualized patterns or verbal nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, need to take same route or eat food every day).
Hyper- or hypo-reactivity to sensory input or unusual interests in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures).
Without supports in place, deficits in social communication cause noticeable impairments. Difficulty initiating social interactions, and clear examples of atypical or unsuccessful response to social overtures of others. May appear to have decreased interest in social interactions. For example, a person who is able to speak in full sentences and engages in communication but whose to- and-fro conversation with others fails, and whose attempts to make friends are odd and typically unsuccessful.
Inflexibility of behavior causes significant interference with functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper independence.
Sensory processing disorder (SPD; also known as sensory integration dysfunction) is a condition that exists when multi-sensory integration is not adequately processed in order to provide appropriate responses to the demands of the environment.
Adjustment disorder with disturbance of conduct. behaviors like social withdrawal or inhibitions to normally expected activities, like school or work.
Developmental coordination disorder (DCD) also known as developmental dyspraxia is a chronic neurological disorder beginning in childhood that can affect planning of movements and co-ordination as a result of brain messages not being accurately transmitted to the body.
