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Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings
- Source :
- American Journal of Medical Genetics. Part A; 12 October 1998, Vol. 79 Issue: 5 p343-346, 4p
- Publication Year :
- 1998
-
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 ectrodactylyectodermal dysplasiaclefting syndrome (EEC), and ankyloblepharonectodermal defectscleft lip and palate syndrome (AEC) are discussed. Am. J. Med. Genet 79:343346, 1998. © 1998 Wiley-Liss, Inc.
Details
- Language :
- English
- ISSN :
- 15524825 and 15524833
- Volume :
- 79
- Issue :
- 5
- Database :
- Supplemental Index
- Journal :
- American Journal of Medical Genetics. Part A
- Publication Type :
- Periodical
- Accession number :
- ejs1832923
- Full Text :
- https://doi.org/10.1002/(SICI)1096-8628(19981012)79:5<343::AID-AJMG3>3.0.CO;2-K