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- W4255331805 abstract "We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss. The mouth was small with repaired bilateral cleft lip and palate. Oral manifestations included hypodontia, microdontia, unerupted mandibular premolars with well formed roots, large dental pulp spaces, enamel hypoplasia, multiple caries, glossy tongue, and congenital absence of lingual frenum and of sublingual caruncles including submandibular and sublingual salivary duct openings. Palmoplantar keratoderma, unerupted premolars, congenital absence of lingual frenum, sublingual caruncles, glossy tongue, and pili canaliculi seen in the patient are newly recognized findings of this syndrome. Overlapping findings of RHS ectrodactyly–ectodermal dysplasia–clefting syndrome (EEC), and ankyloblepharon–ectodermal defects–cleft lip and palate syndrome (AEC) are discussed. Am. J. Med. Genet 79:343–346, 1998. © 1998 Wiley-Liss, Inc." @default.
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- W4255331805 date "1998-10-12" @default.
- W4255331805 modified "2023-09-26" @default.
- W4255331805 title "Rapp‐Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings" @default.
- W4255331805 doi "https://doi.org/10.1002/(sici)1096-8628(19981012)79:5<343::aid-ajmg3>3.3.co;2-5" @default.
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