Multiple pterygium syndrome: mimicking the findings of Turner syndrome.
Multiple pterygium syndrome (MPS or Escobar syndrome) is a rare, generally autosomal recessive disorder characterized by multiple congenital joint contractures and multiple skin webs. An 11.5-year-old girl with a working diagnosis of Turner syndrome (TS) was referred for her phenotypic features and growth retardation. Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome). Her mental status was normal. Facial asymmetry was present due to cervical webs. Normal karyotype, gonadal functions, and cardiac and urinary system findings helped in excluding TS. Genetic diseases associated with skin webs were revised in differential diagnosis.
Clinics of Pediatric Endocrinology, Göztepe Educational and Research Hospital, Dr. Erkin Caddesi Eğitim, Kadiköy, Istanbul, Turkey. aylaguven@yahoo.com
Ayla
A
Güven
Heves
H
Kirmizibekmez
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001827:Body Height; D002648:Child; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics*; D011625:Pterygium / Q000175:diagnosis* / Q000235:genetics*; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis*