[Shwachman's syndrome: pancreatic exocrine insufficiency retarded growth, metaphyseal dysostosis and neutropenia (author's transl)]. 1977

A Sarriá, and A Lázaro, and J Lázaro, and J Garagorri, and J Sanz, and M Bueno

A boy of 5 8/12 years of age affected with Shwachman's Syndrome is presented. He showed frequent respiratory infections that can be in order with a low account in T-lymphocytes found on immunological study. A cytoplasmic degenerative process was found after microscopical and ultrastructural vision of osteoid tissue, which is compatible with biochemical alterations.

UI MeSH Term Description Entries
D008297 Male Males
D009503 Neutropenia A decrease in the number of NEUTROPHILS found in the blood. Neutropenias
D010182 Pancreatic Diseases Pathological processes of the PANCREAS. Disease, Pancreatic,Diseases, Pancreatic,Pancreatic Disease
D012021 Reflex, Abnormal An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. Hyperreflexia,Hyporeflexia,Abnormal Deep Tendon Reflex,Abnormal Reflex,Abnormal Reflexes,Bulbocavernosus Reflex, Decreased,Bulbocavernousus Reflex Absent,Hoffman's Reflex,Palmo-Mental Reflex,Reflex, Absent,Reflex, Acoustic, Abnormal,Reflex, Anal, Absent,Reflex, Anal, Decreased,Reflex, Ankle, Abnormal,Reflex, Ankle, Absent,Reflex, Ankle, Decreased,Reflex, Biceps, Abnormal,Reflex, Biceps, Absent,Reflex, Biceps, Decreased,Reflex, Corneal, Absent,Reflex, Corneal, Decreased,Reflex, Decreased,Reflex, Deep Tendon, Abnormal,Reflex, Deep Tendon, Absent,Reflex, Gag, Absent,Reflex, Gag, Decreased,Reflex, Knee, Abnormal,Reflex, Knee, Decreased,Reflex, Moro, Asymmetric,Reflex, Pendular,Reflex, Triceps, Abnormal,Reflex, Triceps, Absent,Reflex, Triceps, Decreased,Reflexes, Abnormal,Absent Reflex,Decreased Bulbocavernosus Reflex,Decreased Reflex,Palmo Mental Reflex,Pendular Reflex,Reflex Absent, Bulbocavernousus,Reflex, Decreased Bulbocavernosus,Reflex, Hoffman's,Reflex, Palmo-Mental
D001847 Bone Diseases Diseases of BONES. Bone Disease,Disease, Bone,Diseases, Bone
D001862 Bone Resorption Bone loss due to osteoclastic activity. Bone Loss, Osteoclastic,Osteoclastic Bone Loss,Bone Losses, Osteoclastic,Bone Resorptions,Loss, Osteoclastic Bone,Losses, Osteoclastic Bone,Osteoclastic Bone Losses,Resorption, Bone,Resorptions, Bone
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005357 Fibrous Dysplasia of Bone A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC). Osteitis Fibrosa Disseminata,Fibrocartilaginous Dysplasia of Bone,Fibrocystic Dysplasia of Bone,Jaffe-Lichtenstein Disease,Bone Fibrocartilaginous Dysplasia,Bone Fibrocartilaginous Dysplasias,Bone Fibrocystic Dysplasia,Bone Fibrocystic Dysplasias,Bone Fibrous Dysplasia,Bone Fibrous Dysplasias,Jaffe Lichtenstein Disease
D005684 Gait Manner or style of walking. Gaits

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