Alagille Syndrome - GeneReviews® - NCBI Bookshelf
2000年5月19日 · Typical facial features of Alagille syndrome. Note broad forehead, deep-set eyes, and pointed chin. Family history is consistent with autosomal dominant inheritance (e.g., …
Alagille Syndrome - Children's Hospital of Philadelphia
Alagille syndrome — also known as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia — is an inherited liver disorder that also affects the heart, eyes, …
Medical and dental management of Alagille syndrome: A review
Here, we review the main features of Alagille syndrome with special focus on oro-facial manifestations like prominent forehead, moderate hypertelorism with deep-set eyes, a saddle …
Alagille Syndrome - StatPearls - NCBI Bookshelf
2023年8月12日 · Dysmorphic facies: characterized by the prominent, broad forehead, deep-set eyes with moderate hypertelorism, prominent ears, triangular face with a pointed chin, and …
Multidisciplinary Management of Alagille Syndrome - PMC
Characteristic facies of Alagille syndrome. (A) In an infant with cholestasis of 2 months age. (B) In a 2-year-old child with Alagille syndrome. Chronic cholestasis in ALGS patients leads to …
Facial features in Alagille syndrome: Specific or cholestasis facies ...
2002年9月18日 · Alagille syndrome (AGS;OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems. The …
Alagille Syndrome | Syndromes: Rapid Recognition and …
Diagnostic criteria require the presence of cholestasis and two of the following findings: characteristic facies, pulmonary artery stenosis, “butterfly” hemivertebrae, and posterior …
Facial features in Alagille syndrome: specific or cholestasis facies ...
2002年10月1日 · In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking clinical dysmorphologists to examine a photographic panel of 18 …
Alagille Syndrome: Diagnostic Challenges and Advances in …
Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, …
Alagille syndrome: pathogenesis, diagnosis and management
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in …
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