Genetic disorder with facial features, hip
dislocation, and diminished abdominal musculature.
Ptosis Strabismus Diastasis.
Extremely rare. The two brothers
described had consanguineous parents, hence autosomal recesssive inheritance
has been suggested.
Diagnosis is based on the clinical findings.
Facial features include depressed nasal bridge, hypertelorism,
blepharophimosis, blepharoptosis, and paresis of ocular muscles with
strabismus. The ears are low set with a folded helix, and the external
auditory canal may be atretic or absent. Vision and hearing may be impaired.
The palate may be arched and narrow. Hip dysplasia leads to dislocation.
Aplasia or hypoplasia of the abdominal muscles results in diastasis.
Pronation and supination are limited, but flexion and extension in the elbow
are normal. Short stature, mild mental retardation, and cryptorchidism present in both patients.
Anesthesia in these patients has not
been described. The presence of a narrow, arched palate may make tracheal
intubation difficult. Abdominal muscle defects may lead to postoperative
ventilation problems. Postoperative mechanical ventilation may therefore be required.
Patient cooperation may be limited secondary to mental retardation and
impaired hearing and vision. Sedative and anxiolytic premedication and the
presence of the primary caregiver during induction of anesthesia may be helpful.
Carnevale F, Krajewska G, Fischetto R, et al: Ptosis of eyelids,
strabismus, diastasis recti, hip defect, cryptorchidism, and developmental
delay in two sibs. Am J Med Genet