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479 Possible Causes for Dysmorphic Face, Hypertelorism, Rarely Malignant

  • 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[] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[] With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML.[]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[] However, in females with TS and no Y chromosomal material, this is rarely seen.[]

  • 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.[] […] genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy[]

  • Down Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[]

  • Klinefelter Syndrome

    The presented case emphasizes the importance of awareness and expedient appropriate management to achieve oncologic control of a rare tumor with low malignant potential discovered[] […] may be small, and gynecomastia is frequently reported 49,XXXXY (4 X chromosomes) This is the most severe variant of Klinefelter syndrome Abnormal facial features include hypertelorism[] […] to be taller with long lower extremities IQ is generally reduced with speech and motor delay more commonly occurring 48XXXY May result in a more abnormal phenotype with hypertelorism[]

  • Trisomy 18

    Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant[] At 19 weeks' gestation a follow-up scan revealed, apart from the resolution of septated cystic hygroma, hypertelorism, a large interventricular septum defect with an atrio-ventricular[] Common features are intrauterine and postnatal growth delay, an emaciated appearance with hypotrophy, microcephaly with a narrow skull and dolichocephaly, microretrognathia, hypertelorism[]

  • Neurofibromatosis Type 1

    Plexiform neurofibromas- tumors along nerve bundle tracts, can be large and usually appear at birth or early in childhood (occur in 25%) Malignant peripheral nerve sheath[] Gene deletion (5%) NF1 gene large deletions – dysmorphic facial features: hypertelorism, downslanting palpebral fissures, broad fleshy noses, “coarse" face becoming more marked[] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[]

  • SHORT Syndrome

    More rarely, short root anomaly may be idiopathic, probably the result of fresh mutations or variable penetration of an autosomal dominant trait. [7] The only study regarding[] It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[]

  • Mulibrey Nanism Syndrome

    […] and other rare disorders.[] […] accompanied by infrequent or very light menstrual periods Absent frontal sinuses Astigmatism Congestive heart failure Dental crowding Dolichocephaly Dysarthria Frontal bossing Hypertelorism[] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[]

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