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Clinical case reports of affected family members.

Case IV:1. The proband, a girl, was born at term after a normal pregnancy. At birth, she had bilateral hip luxation, vertical talus of the left foot and pes equinovarus type of deformity in the right foot, ulnar deviation of fingers, camptodactyly and an adducted right thumb. She also developed an inguinal hernia. She was treated with stretching and orthoses in the hands, and serial casting in the lower extremities. Surgical treatment was performed with percutaneous lengthening of the right Achilles tendon at age four months, and with posterior release of the right pes equinovarus deformity and reposition of talus in the left foot at age ten months, in both cases followed by stretching and orthoses.

At the time of investigation she was two years old. Her feet were in a plantigrade position, she had prominent heel cushions and a mild lateral deviation of the toes, ulnar deviation of the fingers with dimples over the MCP joints but otherwise no remaining joint contractures. Her muscle strength and motor ability were normal for age, and there was no muscle atrophy. Mouth, nasolabial folds and palpebral fissures were normal. Growth and psychomotor development was normal.

Case III:5. The father of the proband had clenched fists, subluxation of the hip joints and malpositioning of the feet with inward rotation at birth. He was treated with orthoses for the hips and feet, but no orthopedic surgery was performed. At age 13 years he was investigated for allergic disease, and S-CK concentration was found to be elevated to 42.8 kat/L (reference interval < 3kat/L) with slightly elevated concentrations of S-ASAT and S-ALAT. He was referred for a muscle biopsy which showed mild myopathic findings with type 1 fiber

hypoplasia. He had a mild unilateral hearing loss. As an adult he had had a period of severe pain in the left shoulder. He had a recurrent inguinal hernia, and recurrent Raynaud’s phenomen in his fingers, requiring medication.

On clinical examination at age 30 years, there was no detectable muscle weakness. Joint range of motion was impaired in shoulder flexion and dorsal flexion of the wrists, and there was also a mild limitation in supination of the elbows. There was ulnar deviation of the fingers. The sternocleidomastoideus muscles were short and prominent. The ears were slightly low set and there was a mild micrognathia. The mouth, nasolabial folds and palpebral fissures were normal.

Case III:3. The proband’s paternal uncle had subluxation of the hips, pes calcaneovalgus, vertical talus, and contractures in the hands with ulnar deviation of the fingers at birth. The hips were treated with abduction orthoses, the feet with plaster casting, and he received hand orthoses. The foot deformities were treated surgically at three occasions between the age of six and eight years, in addition to treatment with orthoses and orthopaedic shoes. The hands were operated on at age 12, 13 and 18 years, with improved function of the thumbs but with remaining problems with hand grip function. He had problems with cold hands and feet, excessive sweating of the feet and pains after exertion, especially in the feet.

On clinical examination at age 34 years, he had a high arched palate, there was a mild micrognathia, mildly limited opening of the mouth and narrow palpebral fissures. Nasolabial fissures were normal. Range of motion was reduced in shoulders and wrists, and there was ulnar deviation of fingers with laterally placed thumbs. Dorsal flexion of the feet

was impaired. Toes were overlapping. The right calf was thin. There was no detectable muscle weakness.

Case III:2. The proband’s affected paternal aunt had congenital luxation of the hips, bilateral pes calcaneovalgus and vertical talus, and ulnar deviation of the hands. She was treated with closed repositioning of hips and redression of feet at age three days, and her hips were then treated with abduction orthoses. At age three years an attempted open reposition of the right hip was performed, with re-operation at age six years. She developed arthrosis of the right hip joint and surgery with hip replacement was performed at the age of 34 years. The feet were treated with lengthening of the Achilles tendon at age one year, and at age 10 years with open repositioning and Achilles tendon lengthening. She later developed a rocker-bottom type of deformity in the feet, and also scoliosis. She had pains in her hips after exertion, and also problems with cold feet.

On clinical examination at age 38 years, she had a limp and a mild scoliosis. Muscle strength was normal. The palpebral fissures were narrow. She had mildly limited mouth opening, and short neck muscles. Nasolabial folds were normal. Joint mobility was reduced in shoulders, elbows and wrists, the radial heads were prominent, and supination was impaired in the elbows. MCP and MP joints were fixed in a flexed position. The palms of the hands were smooth. There were contractures in the hips and ankles. Both calves were thin and the heel cushions were prominent. The big toes were deviated in under the foot bilaterally.

Case II:4. The paternal grandfather of the proband had congenital malpositioning of the feet with the right foot in equinovarus and the left foot in calcaneovalgus position, and also clenched fists with thumbs in hand. He had impaired joint mobility in shoulders, hips and

knees. Several surgical procedures were performed in the feet up to the age of 10 years. He was also treated with orthoses. Surgery was performed on his left hand with opening of the thumb grip and release of contractures in the palm, which resulted in a better but weaker grip. During later years he had impaired hearing, and he complained of increasing stiffness in his shoulders, difficulties in supporting himself when losing his balance and increasing fatigue after exertion requiring long periods of recovery. He walked slowly, and had recurrent mild to severe low back pain, and also pain in the feet and hips.

On clinical examination at age 64 years, he had a high arched palate, impaired mouth opening and a mild micrognathia. Palpebral fissures were normal. Nasolabial folds were well defined. His neck and shoulder muscles were short, and his shoulders were narrow. He had prominent radial heads and impaired supination of the elbows. There were contractures in the wrists and ulnar deviation and flexion in MCP joints with laterally placed, flexed thumbs and smooth palms of the hands. Contractures were found also in shoulders, hips and knees. The calves were thin and the heel cushions were prominent. In spite of the fact that he experienced an increasing fatigue, we could not detect any manifest muscle weakness.