Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume

التفاصيل البيبلوغرافية
العنوان: Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume
المؤلفون: M Larralde de Luna, J Ibargoyen, M L Raspa
المصدر: Pediatric dermatology. 9(1)
سنة النشر: 1992
مصطلحات موضوعية: business.industry, Oral facial digital, Brachydactyly, Infant, Newborn, Dermatology, Anatomy, Orofaciodigital Syndromes, medicine.disease, Skin Diseases, Hypoplasia, stomatognathic diseases, Frontal Bossing, medicine.anatomical_structure, Milia, Scalp, Pediatrics, Perinatology and Child Health, Bifid uvula, otorhinolaryngologic diseases, medicine, Humans, Female, Hypertelorism, medicine.symptom, business
الوصف: A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms. She also had diffuse, nonscarring alopecia with wiry, dry hair. Results of roentgenographic and ultrasound studies were normal. At her present age of 11 months, her psychomotor development is appropriate for her age.
تدمد: 0736-8046
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d312ced9e6c7357cebfaa4962094ee7Test
https://pubmed.ncbi.nlm.nih.gov/1574477Test
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....8d312ced9e6c7357cebfaa4962094ee7
قاعدة البيانات: OpenAIRE