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613 Possible Causes for Absent or Hypoplastic Uterus, Infantile Uterus on Ultrasound, Popliteal Pterygium Syndrome

  • Uterine Hypoplasia

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] It is only possible to determine the infantile uterus with the help of ultrasound. Also this study helps to establish the degree of development of pathology.[brulanta.com] Differential Diagnosis Gonadal Dysgenesis: Hypoplastic uterus with atrophic vagina, streak gonads Androgen Insensitivity Syndrome: Absent uterus, upper 2/3 vagina& ovaries[iranradiology.com]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] pterygium syndrome 0.3 P * 306547 Porencephaly-microcephaly- bilateral congenital cataract syndrome 8 Cases 166286 Porokeratotic eccrine ostial and dermal duct nevus 45 Cases[azkurs.org] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[jpma.org.pk]

  • Salti-Salem Syndrome

    Etiology In contrast to the syndrome of primary hypergonadotropic hypogonadism and partial alopecia (see this term), streak or absent ovaries, hypoplastic uterus, and microcephaly[orpha.net] Syndrome Familial Cyclic Vomiting Syndrome Familial Focal Alopecia Familial Hyperchylomicronemia Syndrome Familial Popliteal Pterygium Syndrome Fanconi syndrome Fara Chlupackova[rgd.mcw.edu] Clinical description In addition to frontoparietal alopecia, the remaining scalp hair was also sparse, and axillary and pubic hair was absent.[orpha.net]

    Missing: Infantile Uterus on Ultrasound
  • Popliteal Pterygium Syndrome

    From Wikidata Jump to navigation Jump to search Human disease facio-genito-popliteal syndrome popliteal web syndrome POPLITEAL PTERYGIUM SYNDROME; PPS POPLITEAL PTERYGIUM[wikidata.org] Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals. Mutations in the IRF6 gene cause popliteal pterygium syndrome.[ghr.nlm.nih.gov] A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium[ncbi.nlm.nih.gov]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.[ncbi.nlm.nih.gov] Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet. 1999;36:888-892.[casereports.in] […] generalised association-Trisomies,Turner’s,Noonan’ specific syndrome- popliteal pterygium antecubital pterygium syndrome multiple pterygium syndrome 4. specific syndrome popliteal[slideshare.net]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Acrorenal Mandibular Syndrome

    uterus didelphys septate uterus unicornuate uterus single fallopian tube Skeletal Limbs: rudimentary to absent tibiae elbow flexion contractures hypoplastic radii hypoplastic[malacards.org] Type II; OPD2 Pena Shokeir syndrome , Type I Pentalogy of Cantrell Pierre Robin Sequence (PRS) Popliteal pterygium syndrome Potter deformity sequence Prune belly syndrome[malformations.org] , polycystic kidney disease or hypoplastic kidneys, diaphragmatic hernia, absent lung lobes, lung segmentation defects).[accessanesthesiology.mhmedical.com]

    Missing: Infantile Uterus on Ultrasound
  • Gonadoblastoma

    Pelvic ultrasonography and magnetic resonance imaging showed a hypoplastic uterus and absent ovaries. Chromosome analysis revealed 46.XY karyotype.[turkjem.org] The B-mode ultrasound showed an infantile uterus, the endometrium appeared as a thin echogenic line, and the masses in the adnexa were non-homogeneous measuring 45 15 mm ([spandidos-publications.com]

    Missing: Popliteal Pterygium Syndrome
  • Commissural Lip Fistula

    Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.[emedicine.medscape.com] Congenital lip pits are seen in various other syndromes like popliteal pterygium syndrome, Type-1 orofaciodigital syndrome, Kabuki makeup syndrome, alveolar synechia syndrome[jorr.org] Congenital lower lip pits have also been reported to occur in three other syndromes: Popliteal pterygium syndrome (lower lip pits, oral clefts, syngnathia, popliteal web,[saudijos.org]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Hypogonadotropic Hypogonadism 22

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[jpma.org.pk] Streak or absent ovaries with malformed uterus, and hypoplastic fallopian tubes had been previously reported in different kindred, but, in these families mental retardation[jpma.org.pk]

    Missing: Popliteal Pterygium Syndrome
  • Antecubital Pterygium

    Popliteal pterygium syndrome lethal type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from[amp.pharm.mssm.edu] Pelvic ultrasound revealed a hypoplastic uterus, but ovaries could not be clearly identified.[jpma.org.pk] "Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies" . Pediatrics . 41 (2): 503–9.[en.wikipedia.org]

    Missing: Infantile Uterus on Ultrasound