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381 Possible Causes for Broad Nasal Bridge, Hypertelorism, Rarely Malignant

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[ncbi.nlm.nih.gov] […] genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy[ncbi.nlm.nih.gov]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] bridge, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21 — called also trisomy 21 First Known Use of Down syndrome[merriam-webster.com] bridge, protruding tongue, high-arched palate, dental abnormalities, and a short and broad neck.[symptoma.com]

  • Saethre-Chotzen Syndrome

    This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related[ncbi.nlm.nih.gov] Abnormally shaped head, eyes that are widely spaced, droopy eyelids, a broad nasal bridge, unusually shaped ears, poor facial asymmetry are all common characteristics of Saethre-Chotzen[grinerplasticsurgery.com] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com]

  • Baraitser-Winter Syndrome 1

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] Her facial anomalies included high arched eyebrows, hypertelorism, downslanted palpebral fissures, a broad nasal bridge, a broad nasal tip and columella, anteverted nostrils[ncbi.nlm.nih.gov] Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation.[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes.[mowatwilson.org] […] congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism[ncbi.nlm.nih.gov]

  • Acrocallosal Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia[ncbi.nlm.nih.gov] […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[ncbi.nlm.nih.gov]

  • Osteopathia Striata

    Figure 13: H&E - Pulmonary metastasis, malignant osteoid. The patient succumbed to disease nine months after the initial diagnosis.[omicsonline.org] Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies,[ncbi.nlm.nih.gov] Craniofacial anomalies included a sloping forehead, bitemporal bulging, sparse medial eyebrows, a prominent nasal bridge, hypertelorism, proptosis, a beaked nose, hypoplastic[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    Rare reports have described malignant tumors (primarily of hematologic origin), aplastic anemia and immunological deficits (IgA deficiency).[symptoma.com] nasal bridge, dysplastic auricles, and retrognathia, is presented.[ncbi.nlm.nih.gov] Fig 2: A 9-year-old boy with Dubowitz syndrome with dental anomalies, hypertelorism, and unilateral ptosis.[healio.com]

  • Hypertrichotic Osteochondrodysplasia

    Structural variations in other ABC transporters have been described rather rarely in EC.[mdpi.com] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net] Hypertrichotic osteochondrodysplasia (Cantu syndrome), AD, sporadic, Unidentified, Coarse dysmorphic facies ... prominent forehead, broad nasal bridge, hypertelorism), hypertrichosis[archive.fo]

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