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22 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have ...
  2. PORCN-Related Developmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1543
    ... M, Grzeschik KH, Dollfus H, Antal MC. Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the ... JJ. Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis. ... O, Imai Y, Yamazaki S. Severe focal dermal hypoplasia in a female patient transmitted from a mildly ...
  3. Microphthalmia with Linear Skin Defects Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7041
    ... Distinctive skin findings (dermal hypoplasia) Ophthalmologic manifestations ... w/IP diagnosis) In incontinentia pigmenti: Erythema followed by blisters (vesicles) ...
  4. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 11818853 ] 801. Photo essay: focus on signs and symptoms. Oral and perioral lesions: a collage. Consultant. 2003; 43 (12):1420, 2. 4-6 passim. PMID: X-1. 802. Al-Ghamdi K, Crawford PJ. Focal dermal hypoplasia -- oral and dental findings. Int J Paediatr Dent. ...
  5. Focal dermal hypoplasia 
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia
    ... to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have ... critical for normal development. The various signs and symptoms of focal dermal hypoplasia are likely due to abnormal Wnt signaling during ...
  6. Aicardi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1381
    ... Cataract, microcornea Short stature Microcephaly is severe. PORCN Focal dermal hypoplasia (Goltz syndrome) XL Normal & ID Microphthalmia, coloboma Cutis ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia</url><title >Focal dermal hypoplasia</title><other_names >< ...
  8. Fryns Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1459
    ... set eyes, wide nasal tip), & skeletal anomalies PORCN Focal dermal hypoplasia (Goltz syndrome) XL Rare Linear skin pigmentation, fat ... Fryns syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  9. Osteopathia Striata with Cranial Sclerosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK569515
    ... of dysmorphic features Absence of metaphyseal striations PORCN Focal dermal hypoplasia (Goltz syndrome) XL Metaphyseal striations Ectodermal manifestations Limb ...
  10. Congenital Diaphragmatic Hernia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1359
    ... autism, ID Hypotonia, facial dysmorphism, visual impairment PORCN Focal dermal hypoplasia XL + Asymmetry of the face, trunk, & extremities; skin ...
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