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Facial abnormalities and malformation of the extremities.

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Blepharo-Naso-Facial Syndrome; Pashayan Syndrome; Pashayan-Pruzansky Syndrome; Cerebrofacioarticular Syndrome.

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An extremely rare syndrome of unknown incidence. Transmission is most likely autosomal dominant; however, X-linked dominant inheritance is also possible.

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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 developmental delay.

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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.

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Klein-Waardenburg Syndrome: Autosomal dominant inherited syndrome with congenital sensory hearing loss and pigmentary disturbance of iris and hair, congenital leukoderma, and facial anomalies.

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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.

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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).

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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 retardation.

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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 125:389, 1973.  [PubMed: 4692594]
Stoll C, Terzic J, Fischbach M: A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome. Genet Couns 10:337, 1999.  [PubMed: 10631920]
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.

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