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A familial disorder characterized by hip dislocation, flat facial aspect and congenital heart defect.


Congenital Dislocation of the Hip with Hyperextensibility of Fingers and Facial Dysmorphism.


An extremely rare disorder with three cases in one family described. Most likely autosomal dominant inheritance. The mother was tall (90th percentile) in the original report and the height of the father was below the 3rd percentile.


The disease involves the head and face (flat face, ear anomalies, epicanthic folds, hypertelorism, periorbital puffiness, broad, flattened nose with anteverted nares, microstoma [carp-shaped], high arched, narrow palate). Skeletal anomalies may include short stature, flat cheek bones, hyperextensible joints, clinodactyly, and hip and knee dislocations. All three sisters had an atrial septal defect, but tricuspid valve prolapse and patent ductus arteriosus were inconstant. Inguinal hernia and urinary tract anomalies occurred in one patient. Results of studies of collagen from skin and ligaments were normal.


Anesthesia in this disorder has not been described. Tracheal intubation should be expected to be difficult secondary to microstoma. Careful intraoperative positioning is mandatory to prevent dislocations of the large joints. Congenital heart defects require an adapted anesthetic management, and subacute bacterial endocarditis prophylaxis may be required.

Collins AL, Dennis NR, Clarke N, et al: A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: A new syndrome? Clin Dysmorphol 4:277, 1995.  [PubMed: 8574416]

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