Autosomal recessive multiple pterygium syndrome


Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


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PMID (PMCID)
22308873
 FEMALE Child
Multiple pterygium syndrome: mimicking the findings of Turner syndrome.
Guven A, Kirmizibekmez H.
J Pediatr Endocrinol Metab. 2011;24(11-12):1089-93.
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).