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7,901 Possible Causes for Autophagic Vacuoles Seen on Biopsy, Frontal Bossing, Italian

  • Cooley's Anemia

    In the skull, the patient presents with a prominent and enlarged forehead referred to as frontal bossing.[symptoma.com] Thalassemia is a hereditary disease that affected Italians and Greeks but now is spread over the world.[capegazette.com] Cooley’s anemia is disproportionately represented among people of Italian heritage.[marinolodge.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Thalassemia

    bossing (due to bone marrow expansion) Delayed pneumatization of sinuses Marked overgrowth of the maxillae Ribs and long bones becoming boxlike and convex Premature closure[emedicine.medscape.com] There are two main types of thalassemia trait: beta-thalassemia trait (more common among Italians) and alpha thalassemia trait.[icf.org] When facial bones are affected it can result in distinctive facial features including an abnormally prominent forehead (frontal bossing), full cheek bones (prominent malar[rarediseases.org]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Fucosidosis

    bossing 0002007 Hernia 0100790 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov] This mutation was present in one allele and was found also in the mother who was of Italian origin. (2) A C to A mutation (W382X) in exon 6 in an Italian patient.[ncbi.nlm.nih.gov] This G60D mutation creates a unique site for AflIII. 4) A frameshift mutation resulted from a two-base deletion in exon 2 (K151fs) in an Italian patient.[ncbi.nlm.nih.gov]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • CINCA Syndrome

    From the first days of life, patients display an urticarial rash in association with chronic inflammation with a typical facies featured by frontal bossing and saddle back[ncbi.nlm.nih.gov] ASC gene, encoding for a direct interactor of cryopyrin, was not mutated in Italian CINCA patients.[ncbi.nlm.nih.gov] Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[cags.org.ae]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Gorlin Syndrome

    bossing, cleft lip or hypertelorism Sprengel deformity, pectus excavatum or pectus carinatum, syndactyly bridging of the sella turcica, hemivertebrae, flame shaped osseous[radiopaedia.org] Report on a patient followed for 10 years Language Italian Pages 359-363 Number of pages 5 Journal Minerva Stomatologica Volume 43 Issue number 7-8 Publication status Published[moh-it.pure.elsevier.com] Delfino", year "1998", language "Italian", volume "18", journal "Dermatologia Clinica", issn "0392-1395", publisher "CIC Edizioni Internazionali s.r.l.[moh-it.pure.elsevier.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Mowat-Wilson Syndrome

    Abstract Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows[ncbi.nlm.nih.gov] We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already[ncbi.nlm.nih.gov] Clinical description The typical characteristic facies of MWS includes a high forehead, frontal bossing, large eyebrows that are medially flaring and sparse in the middle[orpha.net]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Hypochondroplasia

    bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest.[ncbi.nlm.nih.gov] We report the clinical and radiographic features of an Italian family with HCH with an unusual N540S mutation, inside the common mutation hot spot of this condition.[ncbi.nlm.nih.gov] Romeo", year "2008", month "5", language "Italian", pages "173--175", journal "Bollettino - Lega Italiana contro l'Epilessia", issn "0394-560X", publisher "Lega Italiana contro[moh-it.pure.elsevier.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Camurati-Engelmann Syndrome

    bossing ), and bulging eyes with shallow eye sockets ( ocular proptosis ).[ghr.nlm.nih.gov] […] prognosis Complications progressive stenosis of the optic canals and compressive optic neuropathy can give papilloedema 7 History and etymology Named after 2, 3 : M Camurati , Italian[radiopaedia.org] Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian[synonyms.net]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Oculocerebrorenal Syndrome

    Other clinical manifestations include facial dysmorphism (frontal bossing, deep-set eyes, chubby cheeks, fair complexion), destructive teno-synovitis in older patients, short[orpha.net] Our results on the Italian population are similar to the data previously obtained in other populations. 2004 Wiley‐Liss, Inc.[doi.org] The child had an anticipated difficult airway by virtue of large head circumference with frontal bossing, retrognathia and high arched palate.[apicareonline.com]

    Missing: Autophagic Vacuoles Seen on Biopsy
  • Paget Disease of the Bone

    Bone deformity (including sabre tibia (bowing of the tibia), kyphosis, frontal bossing of the skull, an enlarged maxilla, an increase in head size).[patient.info] Look up "osteitis deformans" at Merriam-Webster Look up "osteitis deformans" at dictionary.com In other languages: Spanish French Italian Portuguese Romanian German Dutch[wordreference.com] Skull involvement may produce enlargement of the head characterized by more evident frontal bossing and dilated superficial cranial muscles.[veterans.gc.ca]

    Missing: Autophagic Vacuoles Seen on Biopsy

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