Skip to Main Content

++

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 33:186, 1989.  [PubMed: 2569826]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.