The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition
- PMID: 946410
- DOI: 10.1111/j.1365-2133.1976.tb04384.x
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition
Abstract
Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.
Similar articles
-
Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.Am J Med Genet. 1987 May;27(1):207-12. doi: 10.1002/ajmg.1320270123. Am J Med Genet. 1987. PMID: 3605196
-
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.Clin Genet. 1976 Jan;9(1):35-42. doi: 10.1111/j.1399-0004.1976.tb01547.x. Clin Genet. 1976. PMID: 174848
-
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.Ital J Pediatr. 2021 Sep 28;47(1):196. doi: 10.1186/s13052-021-01152-y. Ital J Pediatr. 2021. PMID: 34583755 Free PMC article.
-
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.Eur J Dermatol. 2012 Sep-Oct;22(5):605-13. doi: 10.1684/ejd.2012.1787. Eur J Dermatol. 2012. PMID: 22759387 Review.
-
Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.Arch Dermatol. 2005 Dec;141(12):1591-4. doi: 10.1001/archderm.141.12.1591. Arch Dermatol. 2005. PMID: 16365264 Review. No abstract available.
Cited by
-
The EEC syndrome and its ocular manifestations.Br J Ophthalmol. 1989 Apr;73(4):261-4. doi: 10.1136/bjo.73.4.261. Br J Ophthalmol. 1989. PMID: 2713303 Free PMC article.
-
A neonate with denuded skin: Hay-Wells syndrome.CMAJ. 2004 Jul 20;171(2):131. doi: 10.1503/cmaj.1031610. CMAJ. 2004. PMID: 15262880 Free PMC article. No abstract available.
-
Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?J Med Genet. 1993 Sep;30(9):793-5. doi: 10.1136/jmg.30.9.793. J Med Genet. 1993. PMID: 8411079 Free PMC article.
-
Atrial fibrillation in a pediatric patient caused by an unusual malignant etiology: A case report.Front Pediatr. 2023 Feb 23;11:1051041. doi: 10.3389/fped.2023.1051041. eCollection 2023. Front Pediatr. 2023. PMID: 36911023 Free PMC article.
-
Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene.Balkan J Med Genet. 2020 Aug 26;23(1):95-98. doi: 10.2478/bjmg-2020-0013. eCollection 2020 Jun. Balkan J Med Genet. 2020. PMID: 32953416 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources