Create issue ticket

109 Possible Causes for Delayed Female Puberty, Hypertelorism, Rarely Malignant

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[] Common ones are short height, absent or delayed puberty, and infertility. Causes Turner syndrome happens in girls and women. Females have two X chromosomes.[] […] 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[]

  • 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[]

  • Diabetes Mellitus

    Abstract Werner syndrome is a rare genetic disease characterized by progeria, diabetes mellitus, cataracts and various types of malignancy.[] […] presentation, at the gestational age of 35 weeks, weighing 1500 g (intrauterine growth retardation, p At birth: Apgar Score 7, features of down syndrome - epicanthic eye-fold, hypertelorism[] We herein report an extremely rare case of Werner syndrome accompanied by adrenal cortex cancer.[]

  • Rothmund Thomson Syndrome

    Myelodysplasia and hematologic malignancy are rare. In the absence of malignancy, lifespan is generally normal. For more information, see OMIM .[] […] or absent hair, eyelashes, and eyebrows, forearm reduction defects, small hands with hypoplasia of the middle phalanx (little finger) in one of the probands, epicanthus, hypertelorism[] Rothmund-Thomson syndrome (RTS) is a rare disorder with a predisposition for cutaneous and non-cutaneous malignancy.[]

  • Cystic Fibrosis

    Osteonecrosis of the jaw has been associated with high‐dose intravenous bisphosphonate therapy in patients with malignancy ( Pendrys 2008 ).[] Delayed puberty and reduced fertility are other complications; most males are azoospermic because of agenesis of the vas deferens.[] We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and[]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[] ., testes in males, ovaries in females) may result in delayed development of secondary sexual characteristics (puberty) in some affected males and females.[] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[]

  • Juvenile Myxedema

    They are rarely neoplastic, but rather a metaplasia of the normal glandular elements.[] Children with juvenile hypothyroidism may present with precocious puberty.[] Hoarse voice Cardiomegaly Bradycardia Pericardial effusion - usually asymptomatic Failure of fusion of distal femoral epiphyses The growing child will have short stature, hypertelorism[]

  • Thalassemia

    Severe and rare phenotypes of HbH disease can demonstrate similar complications. Osteopenia may be associated with deletional HbH as well. F.[] […] had red blood cell (RBC) indices consistent with α-thalassemia (α-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism[] Note the upswept frontal hair line, hypertelorism, epicanthic folds, flat nasal bridge, small triangular upturned nose, tented upper lip, everted lower lip and hypotonic facies[]

  • Acromegaly

    CONCLUSIONS: Benign neoplasms were found in majority of patients with acromegaly (71.6%) most notably: nodular goiter and colon polyps; malignant lesions were rare (4.5%).[] […] acromegaloid facial appearance syndrome, featuring a prominent forehead, prognasthism (mandibular protusion), enlarged nose, large ears, macroglossia, (usually lower) macrocheilia, hypertelorism[] Acromegaly patients presenting with a hematological malignancy are rare. To date, there are several cases that have reported the co-occurrence of these diseases.[]

  • Sotos Syndrome

    Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas.[] This normalization was more pronounced in females and was probably related to their early puberty.[] […] overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism[]

Similar symptoms