Genetic & Dysmorphic Book ELBABA M.A.

From MRCPCH 2009 Website OMIM 2010

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ALAGILLE SYNDROME; ALGS /OMIM 2010

INHERITANCE:
Autosomal dominant
GROWTH:
Failure to thrive
HEAD AND NECK:
Face
Broad forehead
Triangular face
Prominent zygomatic arch
Eyes
Deep-set eyes
Posterior embryotoxon
Anterior chamber anomalies
Eccentric or ectopic pupils
Chorioretinal atrophy
Retinal pigment clumping
Axenfeld anomaly
Choroidal folds
Strabismus
Myopia
Anomalous optic disc
Nose
Long nose with bulbous tip
CARDIOVASCULAR:
Peripheral pulmonary artery stenosis
Atrial septal defect
Ventricular septal defect
Coarctation of aorta
CHEST:
Ribs, sternum, clavicles, and scapulae
Rib anomalies
ABDOMEN:
Liver
Cholestasis
Intrahepatic duct deficiency
Biliary tract
Extrahepatic duct involvement
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Genetic & Dysmorphic Book ELBABA M.A.
From MRCPCH 2009 Website OMIM 2010
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SKELETAL:
Spine
Vertebral anomalies
Butterfly vertebral arch
Hemivertebrae
Limbs
Short ulnae
Hands
Short distal phalanges
NEUROLOGIC:
Central nervous system
Mild mental retardation, occasional
Learning disability
Peripheral nervous system
Absent deep tendon reflexes
GENITOURINARY:
Kidneys
Renal dysplasia
Renal mesangiolipidosis
Medullary cystic disease
NEOPLASIA:
Hepatocellular carcinoma
Papillary thyroid carcinoma
LABORATORY:
Hypercholesterolemia
Hypertriglyceridemia
Elevated transaminases
Abnormal liver function tests
MOLECULAR:
Caused by mutation in the jagged 1 gene (JAG1, 601920.0001)

MOSTAFA ELBABA

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