Association of multiple pterygia with facial
anomalies, and orthopedic and genitourinary malformations. It is characterized by short stature, webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated.
Multiple Pterygium Syndrome; Escobar Syndrome; Pterygium
Universale; Pterygium Colli Syndrome.
First described in 1978 by V. Escobar, an American physician.
Remains unknown; however, several cases have been described.
Autosomal recessive inheritance in many cases,
autosomal dominant determination in others. Some cases have been reported as
Neuromuscular disorder has been evocated as
underlying pathogenesis of this disease.
On the association of multiple pterygia, syndactyly,
cleft palate, and micrognathia.
Facial anomalies are frequent (severe microor
retrognathia, ptosis, telecanthus, microcephaly, spoonlike shape of the tongue (lingua cochlearis), cleft hard palate,
ankyloglossia, deafness), normal intelligence, cardiac defect can be
present, muscle weakness, myopathy, multiple orthopedic modifications
(scoliosis, symphalangy, webbed neck, webbing of joints, talipes
varus/valgus, syndactyly of fingers, short stature, vertebral segmentation
abnormality and fusion), genitourinary tract malformation, and occasional diaphragmatic
hernia. Joint contractures and rocker-bottom feet are frequently seen.
Evaluate carefully the airway
(clinical, radiograph, and even endoscopy) because of facial anomalies and
webbed neck. Evaluate pulmonary function (chest radiograph, pulmonary
function test, arterial blood gas analysis) because of the high rate of
restrictive lung disease that is observed. Search for congenital heart
defect or cardiomyopathy (clinical, echography). Laboratory test should
include creatine phosphokinase because of the association in one case of
malignant hyperthermia (no certitude).
There is a high rate of tracheal
intubation difficulties because of anatomical status; laryngeal mask airways
have been successfully used. Fiberoptic intubation can be useful. Caution
with intraoperative patient positioning (pterygia, fixed joints). Close
perioperative respiratory observation in case of respiratory insufficiency.
Perimedullar anesthesia is not contraindicated but could be difficult to
perform because of vertebral fusion and kyphoscoliosis. In presence of
cardiac defects, the anesthetic management should be tailored according.
Antibiotic prophylaxis in case of
cardiac anomalies. Avoid succinylcholine (joint contractures, malignant
hyperthermia status not clear). Muscle relaxant should be used with careful
monitoring (muscle weakness, myopathy) and only after airway is secured.
Postoperative opioids are not contraindicated but should be used with care
in patients with respiratory insufficiency and spontaneous breathing.
Multiple Pterygium Syndrome, Lethal Type: Autosomal
recessive as well as an X-linked form (multiple pterygia, dysmorphic facies,
hypoplastic lungs, hypoplastic heart, jugular lymphatic obstruction
sequence, generalized amyoplasia).
Popliteal Pterygium Syndrome (Faciogenital Popliteal
Syndrome): Autosomal dominant (cleft lip/palate, paramedian
mucous cysts of the lower lip, popliteal pterygium, digital and genital
Popliteal Pterygium Syndrome, Lethal Type: Autosomal
recessive (Bartsocas-Papas syndrome) with cleft lip, neonatal/infantile
death, and severe limb malformation;
Pterygia Mental Retardation Facial Dysmorphism
(Haspeslagh Fryns Muelenaere Syndrome): Autosomal dominant with multiple
pterygia, trigonocephaly, bulging forehead, muscle agenesis, ...