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Escobar Syndrome is a rare disorder characterized by multiple cutaneous webs limiting joint mobility, and congenital anomalies involving the head, neck, face, vertebrae and genitalia. Although autosomal recessive inheritance is the most common inheritance pattern, autosomal dominant and X-linked types have also been reported in literature. It is usually diagnosable at birth.We report here a female patient with absent eyebrows and eyelashes in addition to clinical picture according with Escobar syndrome. These features were not been reported in the literature before
Escobar syndrome is a rare disorder characterized by multiple cutaneous webs limiting joint mobility, and congenital anomalies involving the head, neck, face, vertebrae and genitalia. Although autosomal recessive inheritance is the most common inheritance pattern, autosomal dominant and X-linked types have also been
Field : Sağlık Bilimleri
Journal Type : Uluslararası
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