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98 Possible Causes for Barrel Chest, Hepatomegaly, Kyphosis

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[elsevier.es] Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely[whonamedit.com] Homepage Rare diseases Search Search for a rare disease CAMFAK syndrome ORPHA:1317 Synonym(s): CAMAK syndrome Cataract-microcephaly-arthrogryposis-kyphosis syndrome Cataract-microcephaly-failure[orpha.net]

  • Mucopolysaccharidosis 4

    Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com] Clinical examination revealed a short stature, microcephaly, short neck, cervical scoliosis, slanting forehead, barrel chest deformity, dorsolumbar kyphosis, increased anteroposterior[apicareonline.com] Children may develop: A pronounced curvature of the spine (i.e. scoliosis or kyphosis) Cloudy corneas of the eyes A heart murmur Inguinal hernia Liver enlargement Loss of[chop.edu]

  • Acromegaly

    . • Visceromegalies are common, in the form of goiter, hepatomegaly, splenomegaly, and macroglossia 29. • The clinical manifestations of acromegaly include skin changes such[slideshare.net] chest) joint pain degenerative arthritis enlarged heart enlargement of other organs strange sensations and weakness in arms and legs (carpal tunnel syndrome) snoring fatigue[hopkinsmedicine.org] Also, bones and viscera increase in size including nose, cranium, supraorbital ridges, forehead and vertebrae, causing symptoms such as macrognathia, kyphosis, goiter and[symptoma.com]

  • Spondyloepiphyseal Dysplasia Congenita

    […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[books.google.com] We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment[ncbi.nlm.nih.gov] RESULTS: Her kyphosis was corrected from 116 degrees to 86 degrees at the final follow-up; otherwise, her scoliosis was almost unchanged. Her symptoms were relieved.[ncbi.nlm.nih.gov]

  • Dyggve-Melchior-Clausen Syndrome

    […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[books.google.com] The upper part of the body seems to be more severely affected and a pigeon-shaped (or barrel) chest is one of the hallmarks of Dyggve-Melchior-Clausen syndrome.[symptoma.com] Prognosis The disease often progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the knees and spinal[orpha.net]

  • Mucolipidosis

    Abstract We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis[ncbi.nlm.nih.gov] Coarse facies, a barrel chest, and short stature are characteristic. Hepatic cells contain numerous vacuoles and numerous inclusions.[disorders.eyes.arizona.edu] […] patients, the clinical conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly[ncbi.nlm.nih.gov]

  • Ketoadipicaciduria

    Biochemical profile: Elevated CSF glutamate Clinical features: Seizure disorder refractory to conventional anticonvulsants, high-pitched cry, hypothermia, jitteriness, dystonia, hepatomegaly[merckmanuals.com] Chest List of possible causes of Barrel Chest or similar symptoms may include: 2 Achondrogenesis type 1A (Barrel-shaped chest) Achondrogenesis type 2 (Barrel-shaped chest[familydiagnosis.com] That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.[ncbi.nlm.nih.gov]

  • Smith-McCort Dysplasia

    Stroke Becn1 Helicobacter Infections Prkaa1 hemorrhagic fever with renal syndrome Ifng hepatitis Ifng , Ins2 hepatitis B Ifng hepatitis C Ifng hepatocellular carcinoma Atg7 Hepatomegaly[rgd.mcw.edu] chest Barrel chest 0001552 Beaking of vertebral bodies 0004568 Deformed sella turcica 0002681 Delayed femoral head ossification 0008829 Disproportionate short-trunk short[rarediseases.info.nih.gov] […] eyebrows, widemouth, short trunk, andmild barrel chest.C: Radiographs of thespine at the age of 10 years show platyspondyly, deep notches in the endplates, and thoracolumbar kyphosis[docslide.com.br]

  • Costello Syndrome

    The results of the immunological work-up showed no abnormalities, but ultrasound examination disclosed moderate hepatomegaly.[erj.ersjournals.com] Both had relative macrocephaly at birth, curly hair, large ear lobes, epicanthic folds, a low nasal bridge, thick lips, a short and wide nose, a short neck, a barrel chest[link.springer.com] Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis).[ncbi.nlm.nih.gov]

  • Wolcott-Rallison Syndrome

    In 12.1, 2 and 6, it was for a second opinion and in patient 11.1 for persistent hepatomegaly before the genetic testing was conducted.[karger.com] Scoliosis or thoracic kyphosis with exaggerated lumbar lordosis may develop.[jisppd.com] Regarding vertebrae, changes are especially marked at the dorsolumbar level with a consequent appearance of thoracic kyphosis and/or lumbar lordosis.[journals.lww.com]

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