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Participant 048


tall stature, occipital protuberance, atrial fibrillation
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Male, age 62 with tall stature, a protruding area at the back of the head (occipital protuberance), atrial fibrillation, fragile and sagging skin, bowel diverticulitis, and chronic diarrhea

Date of Report

Jan 25, 2018

Description

Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). At age 58, the patient received a pacemaker and controls his heart conditions with medication (Warfarin).

The participant is very tall (6’10”) and has a narrow head shape (dolichocephaly) with a protruding area at the back of the head (occipital protuberance). He has also been diagnosed with diverticulitis, which is an inflammation or infection in small pouches in the digestive tract. Some of his other symptoms include blurred vision, skin malignancies (basal cell carcinoma, melanoma), mild curvature of the spine (mild thoracolumbar scoliosis), chronic obstructive pulmonary disease (COPD), and recurrent left inguinal hernia (repaired three times).

The participant’s oldest daughter, who is 42, and granddaughter, who is 21, also have similar symptoms.

Symptoms / Signs
  • Tall stature
  • Narrow head shape (dolichocephaly)
  • Protruding area at the back of the head (occipital protuberance)
  • Thin, fragile, and sagging skin (cutis laxa)
  • Poor wound healing
  • Mild cataract (left)
  • Detachment of iris (iridodialysis)
  • Visual loss
  • Blurred vision
  • Disruption of outer eye membranes (spontaneous rupture of the left globe)
  • Skin malignancies (basal cell carcinoma, melanoma)
  • Skin lesion (papule)
  • Heart abnormalities (non ischemic cardiomyopathy, mitral regurgitation, bradycardia, coronary artery disease, paroxysmal atrial fibrillation, myxomatous mitral valve degeneration, premature calcification of mitral annulus)
  • High blood pressure (hypertension)
  • Blood pressure decrease upon standing (syncope)
  • Asthma
  • Collapsed lung (pneumothorax)
  • Chronic obstructive pulmonary disease (COPD)
  • Mild curvature of spine (mild thoracolumbar scoliosis)
  • Acid reflux (gastroesophageal reflux)
  • Paraesophageal hernia
  • Excess fat in stool (steatorrhea)
  • Rectal bleeding (hematochezia)
  • Ulcer of gastrointestinal tract (peptic ulcer)
  • Inflammation or infection in small pouches in the digestive tract (bowel diverticulitis)
  • Bladder diverticulum
  • Depression
  • Mood changes
  • Reduced bone mineral density (osteopenia)
  • Anemia (normocytic)
  • Blood in urine (hematuria)
  • Chronic diarrhea
  • Low back pain
  • Tissue bulge in abdomen (left inguinal hernia)
Current Treatments
  • Warfarin – management of cardiovascular problems
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Cutis laxa
  • Occipital horn syndrome (OHS)
Other Photographs
Genetic Variants of Interest
Contact

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