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