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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS. Butler KM, et al. Clin Dysmorphol. 2021 Oct 1;30(4):167-172. doi: 10.1097/MCD.0000000000000387. Clin Dysmorphol. 2021. PMID: 34456244 Review.
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, …
OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autos …
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
Oliver JD, Menapace DC, Cofer SA. Oliver JD, et al. Int J Pediatr Otorhinolaryngol. 2017 Jul;98:4-8. doi: 10.1016/j.ijporl.2017.04.035. Epub 2017 Apr 24. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28583501 Review.
This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holoprosencephaly, bilateral cleft-lip and palate, retrognathia, gastroesophageal reflux disease, external ear anomalies, eustachian tube …
This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holop …
Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.
Ryu YH, Kyun Chae J, Kim JW, Lee S. Ryu YH, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1412. doi: 10.1002/mgg3.1412. Epub 2020 Jul 26. Mol Genet Genomic Med. 2020. PMID: 32715658 Free PMC article. Review.
Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies. CASE PRESENTATION: Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referri …
Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anom …
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.
Prescott T, Devriendt K, Hamel B, Pasch MC, Peeters H, Vander Poorten V, Tallerås O. Prescott T, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):135-9. doi: 10.1016/j.ejmg.2005.06.005. Epub 2005 Aug 11. Eur J Med Genet. 2006. PMID: 16530710 Review.
All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The lesions were located along an arc from the top of the ear to the corner of the mouth. Patient 1 was born with a unilateral cleft lip an …
All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The le …