Facial abnormalities and malformation of the
Blepharo-Naso-Facial Syndrome; Pashayan Syndrome;
Pashayan-Pruzansky Syndrome; Cerebrofacioarticular Syndrome.
An extremely rare syndrome of
unknown incidence. Transmission is most likely autosomal dominant; however,
X-linked dominant inheritance is also possible.
Facial abnormalities include midface hypoplasia
with broad and flattened nose, large, inverted, W-shaped mouth, and
malformed ears. Telecanthus, epicanthus, lateral displacement of the
lacrimal puncta, and lacrimal excretory obstruction are characteristic
findings. Because of the weakness of the facial muscles, patients have a
mask-like appearance. Malformations of the extremities can include
camptodactyly, clinodactyly, interdigital webbing, and joint hyperlaxity.
Neurological signs comprise torsion dystonia, increased deep tendon
reflexes, poor coordination, positive Babinski sign, hearing impairment, and
Affected patients are otherwise healthy.
Hearing impairment may make communication difficult. Careful assessment of
the airway is required to rule out difficult airway management because of
midface hypoplasia. In general, these patients are not different from
healthy children undergoing the same kind of procedure.
Klein-Waardenburg Syndrome: Autosomal
dominant inherited syndrome with congenital sensory hearing loss and
pigmentary disturbance of iris and hair, congenital leukoderma, and facial
Fetal Alcohol Syndrome (FAS): Characterized by
dysmorphic features (most often midfacial anomalies), intrauterine growth
retardation with failure to achieve catch-up growth, and central nervous system involvement
with cognitive impairment and learning disabilities.
VA(C)TER(L) Association: Acronym for vertebral
anomalies, anal atresia, cardiac malformations (ventricular septal defects,
patent ductus arteriosus, transposition of the great arteries, tetralogy of
Fallot), tracheoesophageal fistula, renal anomalies (urethral atresia with
hydronephrosis), and radial aplasia (or other limb anomalies such as humeral
hypoplasia, hexadactyly, and displaced thumb).
Marden-Walker Syndrome: Autosomal recessive
transmitted disease that affects more males than females. Heart and lung
anomalies, joint contractures, microcephaly, ocular anomalies, high-arched
or cleft palate, mental retardation, muscular hypotonia, and growth
Tel Hashomer Camptodactyly Syndrome: Genetic disorder with muscular hypoplasia, skeletal anomalies, increased
creatine phosphokinase levels, and abnormal electromyogram.
Pashayan H, Pruzansky S, Putterman A: A family with blepharo-naso-facial
malformations. Am J Dis Child
Stoll C, Terzic J, Fischbach M: A three generations family with
blepharo-naso-facial malformations suggestive of Pashayan syndrome. Genet Couns
Van Maldergem L, Wetzburger C, Verloes A, et al: Mental retardation with
blepharo-naso-facial abnormalities and hand malformations: A new syndrome?
Clin Genet 41:22, 1992.