Krieble-Bixler Syndrome

At a glance

It is an inherited medical condition characterized by craniofacial area and skeletal abnormalities. The clinical features include craniosynostosis, prominent forehead, midface hypoplasia, proptosis and ocular hypotelorism, submucosal cleft palate, radiohumeral or radioulnar dysostosis, arachnodactyly, particularly a clinodactyly of the fifth finger, and hypospadias. It may present with tetralogy of Fallot and short stature (dwarfism).

Synonyms

Hypotelorism Cleft Palate Hypospadias Syndrome; Ocular Hypotelorism, Submucosal Cleft Palate Hypospadias Syndrome; Craniosynostosis Choanal Atresia Radial Humeral Synostosis Syndrome; Trapezoidocephaly-Multiple Synostosis Syndrome; Multisynostotic Osteodysgenesis Long Bone Fractures Disease.

History

This syndrome was originally described in 1975 by Drs Ray M. Antley, an American physician, and David Bixler, an American dentist and geneticist.

Incidence

Since the disorder was originally described in 1975, more than 20 cases have been discussed in the literature.

Genetic inheritance

Possibly inherited as an autosomal recessive trait. However, sporadic genetic mutations have been suspected and transmission of the disease as an autosomal dominant trait cannot be eliminated..

Clinical aspects

Ocular manifestations include hypotelorism, blepharophimosis, epicanthus and upslanting of the palpebral fissures. Submucosal cleft palate, inguinal hernia and hypospadias, syndactyly of the third and fourth fingers and second and third toes, and clinodactyly of the fifth finger were other characteristic features. Tetralogy of Fallot was present in the boy only.

Precautions before anesthesia

Accurate preoperative preparation and being aware of the components of this syndrome is vital to eliminate respiratory complications, and enable uneventful anesthetic and surgical management.

Anesthetic considerations

Infants with cleft palate may suffer from feeding difficulties resulting in failure to thrive, anemia, and repeated respiratory infections. Preoperative screening for hemoglobin level and signs of ongoing infection may be warranted. Cleft palate may make laryngoscopy awkward, although not usually difficult. Cardiac assessment is recommended and echocardiography may be indicated to rule out structural lesions.

Other conditions to be considered

• Schilbach-Rott Syndrome (Ocular Hypotelorism-Cleft Palate-Hypospadias Syndrome; Cleft Palate-Hypotelorism-Hypospadias Syndrome): Ten patients in one family (over five generations) have been reported. It is characterized by ocular hypotelorism, submucosal cleft palate, and hypospadias. Other clinical features include blepharophimosis, upslanted palpebral fissures, cutaneous syndactyly of fingers 3 and 4 and toes 2 and 3. No known congenital heart defects associated.

• Harrod Syndrome: Characterized by mental retardation, large protruding ears, arachnodactyly, hypogenitalism, failure to thrive, unusual facial appearance (hypotelorism, long nose, highly arched palate, pointed chin, microstomia), and hypospadias.

References