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Distal arthrogryposis in two sisters born to different fathers

Distal arthrogryposes are a collection of disorders with congenital contractures mainly involving hands and feet. They are classified into two types: type I with only distal limb involvement; and type II with other defects, of which type IIA involves cleft palate [Hall, 1997]. We here describe two sisters with distal arthrogryposis, born to different, phenotypically normal fathers. The mother, a Chinese, is phenotypically normal and of normal intelligence. The elder daughter was born to a Chinese father, and had stiff limb joints including extension contractures of the wrists and knees, and flexion contractures of the elbows, hips, and ankles. She sat at age 12 months, stood with support at 2 years, and walked supported at 4 years. At age 11 years, she had a surgical correction of bilateral hip, knee, and ankle contractures. Now aged 12 years, she is of normal height (50th percentile). Her wrists flex only 30 degrees and knees 30 degrees, and she has contractures of the hips and ankles (Fig. 1a). She can walk supported slowly. At age 6 years, her IQ was estimated at 80, but later estimates placedher in thenormal range. The younger daughter was born to a Caucasian American father, at 38 weeks of gestation with breech presentation. Shehadflexion contractures of the elbows, extension contractures of the wrists, clenched hands, ulnar deviation and overlapping of the fingers, camptodactyly, thumb adduction, hypoplastic palmar flexion creases, flexion contractures of the hips with abduction, extension contractures of the knees, bilateral talipes equinovarus, pre-tibial linear skin indentations, and kyphoscoliosis (Figs. 1b and 2). She had a cleft palate repaired at age 9 months. Her chromosomes were normal. She showed good response to physical therapy. At the age of 18 months, she raised her arms to the shoulder level. She reached for an object and transferred it from hand to hand. At age 3 years, she rolled over and sat alone. Now aged 4 years, her height is at 75th percentile. She can stand supported. She has a normal intelligence. Distal arthrogryposis type I is a likely diagnosis in the elder daughter, while IIA is likely in the younger daughter because of the presence of cleft palate. The