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17 Possible Causes for Mild Pancreatic Hypoplasia

  • H Syndrome

    The SLC29A3 gene, encoding hENT3, a member of the equilibrative nucleoside transporter family, has recently been found mutated in Faisalabad histiocytosis, pigmented hypertrichotic dermatosis with insulin-dependent diabetes, familial sinus histiocytosis with massive lymphadenopathy (SHML), and H syndromes. We here[…][ncbi.nlm.nih.gov]

  • Hyperalaninemia

    […] intrauterine growth retardation Pancreatic hypoplasia Delayed puberty Pachygyria Decreased body weight Mild microcephaly Pica Diabetes mellitus Hepatic failure Steatorrhea[mendelian.co] Microcornea Esotropia Bilateral sensorineural hearing impairment Coxa valga Brittle hair Broad-based gait Coronal craniosynostosis Slow-growing hair Hand tremor Agitation Mild[mendelian.co]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Other organ involvement can include hepatosplenomegaly, renal hypoplasia, pancreatitis, and ovarian dysgenesis.[leukodystrophyresourceresearch.org] Clinical features that may be noted soon after birth include feeding difficulties, vomiting, hypotonia, mild contractures, and cataract (sometimes oil droplet cataract) and[leukodystrophyresourceresearch.org]

  • Acrorenal Mandibular Syndrome

    […] of the pancreas Mild intrauterine growth retardation Right aortic arch with mirror image branching Sandal gap Bicornuate uterus Truncus arteriosus Microcornea Pancreatic[mendelian.co] Dilatation Syndactyly Agenesis of pulmonary vessels Bilateral lung agenesis Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Optic nerve aplasia Aplasia/Hypoplasia[mendelian.co]

  • Short Rib-Polydactyly Syndrome

    Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava.[ncbi.nlm.nih.gov] Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality.[ncbi.nlm.nih.gov]

  • Neonatal Isoimmune Neutropenia

    […] anemia, Hypergammaglobulinemia 2 Sever recurrent infections, Neutropenia, Dysmyelopoiesis 3 Neutropenia, Metaphyseal dysplasia, Pancreatic insufficiency 4 Oculocutaneous[slideshare.net] […] albinism, Progressive peripheral neuropathy, neutropenia, lymphoma-like syndrome 5 Agranulocytosis, Lymphoid hypoplasia, Thymic hypoplasia 24. 30 Febrile Neutropenia Figure[slideshare.net] • Well-appearing children with transient neutropenia, particularly of short duration, are also at low risk for infection [38]. 1 Neutropenia, Severe/frequent infections, Mild[slideshare.net]

  • Short Rib-Polydactyly Syndrome Type Beemer-Langer

    Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava.[ncbi.nlm.nih.gov] Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality.[ncbi.nlm.nih.gov]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    […] to moderate developmental delay - optic nerve dysplasia - pituitary hypoplasia (occasionally panhypopituitarism) - agenesis of septum pellucidum Schwachman-Diamond Syndrome[quizlet.com] - AR inheritance - exocrine pancreatic dysfunction - bone marrow dysfunction - short stature - skeletal abnormalities (clinodactyly, syndactyly, coxa vera, etc.) - hepatomegaly[quizlet.com] […] upper-lower segment ratio - triangular facies - frontal bossing/prominent forehead - coronal craniosynostosis - limb deformities - low set frontal hairline and facial asymmetry - mild[quizlet.com]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    […] to moderate developmental delay - optic nerve dysplasia - pituitary hypoplasia (occasionally panhypopituitarism) - agenesis of septum pellucidum Schwachman-Diamond Syndrome[quizlet.com] - AR inheritance - exocrine pancreatic dysfunction - bone marrow dysfunction - short stature - skeletal abnormalities (clinodactyly, syndactyly, coxa vera, etc.) - hepatomegaly[quizlet.com] […] upper-lower segment ratio - triangular facies - frontal bossing/prominent forehead - coronal craniosynostosis - limb deformities - low set frontal hairline and facial asymmetry - mild[quizlet.com]

  • Pancreatic Hypoplasia - Diabetes - Congenital Heart Disease Syndrome

    […] microcephaly Ureteral duplication Oligohydramnios Perimembranous ventricular septal defect Cervical ribs Intermittent diarrhea Pancreatic hypoplasia Biliary atresia Microcolon[mendelian.co] Short palpebral fissure Transposition of the great arteries Congenital hypothyroidism Postaxial polydactyly Pulmonary artery stenosis Prolonged partial thromboplastin time Mild[mendelian.co]

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