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Congenital Hand
Published in J. Terrence Jose Jerome, Clinical Examination of the Hand, 2022
The manifestation of cleft hand may vary from only a very minor cutaneous cleft without absence of the finger to a severe form in which only the little finger remains. The condition may involve the feet [31]. Cleft hand is commonly inherited as an autosomal dominant trait and is associated with syndromes such as split-hand/split-foot or ectodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome [33,34].
The skin
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Other types of ectodermal dysplasia are autosomal. Both dominant and recessive types have been described, as well as a number of more generalised syndromes. There is a family of TP63-associated ectodermal dysplasia syndromes, including the ectrodactyly-ectodermal dysplasia–cleft lip/palate (EEC) syndrome, the Rapp-Hodgkin syndrome and the ankyloblepharon-ectodermal defects–cleft lip/palate (AEC) syndrome. Clouston hidrotic ectodermal dysplasia results from alterations to the gene GJB6, and hence to the protein connexin 30, disrupting cell-cell junctions.
plastic Surgery
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Kangesu Loshan, Jonathan A. Britto, Neil Bulstrode, David Dunaway, Paul Morris, Branavan Sivakumar, Gill Smith, Guy Thorburn
These common facial clefts result from a failure of fusion of the central (frontonasal) and lateral (maxillary) embryological processes that form the midface. The aetiology is unknown for the majority of families but is probably multi-factorial with environmental and genetic factors. There is only a 30% concordance rate among identical twins. Recognised environmental factors are maternal diabetes, alcohol and drugs (phenytoin, steroids) and known syndromes (5–15%) e.g. Van der Woude and ectodactyly, ectodermal dysplasia clefting (EEC) syndrome.
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction
Published in Orbit, 2020
Swati Singh, Dinesh Selva, Arpita Nayak, Alkis Psaltis, Mohammad Javed Ali
Although the technique used for endoscopic DCR in syndromic cases is the same as that described for pediatric DCR, altered surgical anatomy, thicker bones, and associated punctal agenesis or canalicular stenosis need to be factored in when performing the procedure. Associated lacrimal anomalies other than membranous NLD block were reported in up to 78% of Down syndrome patients, the common ones being a canalicular stenosis (60.5%) and tight NLD (18.4%).3 Our series showed 10% (2/20) of the patients to have associated canalicular stenosis. Most of the cases in the present series were bilateral (67%, 8/12) similar to the previous reports. Bilateral involvement was noted in 16 (73%) of the Down syndrome patients compared with 15 (34%) of the control patients (P 0.003).3 Ostioseptal adhesions and inadequate osteotomy were the quoted factors responsible for failure in these cases.13 The failure in the current series was secondary to complete cicatricial closure of the ostium. The present series also had three eyes with EEC syndrome that were operated upon with successful results. Two out of three eyes had a stent placement during the DCR surgery. Very few cases are published about the results of DCR in EEC syndrome.12 Bilateral endoscopic DCR in a 9-year-old girl with EEC syndrome has shown good results following a failed external DCR.14
Surgical outcome and unusual complications of paediatric external dacryocystorhinostomy
Published in Orbit, 2019
Francesco M. Quaranta-Leoni, Sara Verrilli, Antonella Leonardi
Three children had EEC syndrome; systemic findings in these patients include cleft lip and palate, ectrodactyly of the hands and feet, adontia or microdontia, and lightly pigmented, dry hair and skin.19 In a previous report a young patient with EEC had a successful DCR on one side and conjunctivodacryocystorhinostomy with insertion of a Jones tube (CDCR and LJT) on the other side, due to punctal atresia, with resolution of lacrimation post-operatively.19 The cases reported in this series had bilateral epiphora: one had a bilateral DCR for bilateral mucocoele, the other two had unilateral DCR on the side of previous dacryocystitis, but were left untreated on the side were punctal atresia was present, as the Authors prefer to perform CDCR and LJT after the age of 12.
Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies
Published in Ocular Immunology and Inflammation, 2020
Francisco Lucero Saá, Federico Andrés Cremona, Natalia Ximena Mínguez, Carina Paola Rinaudo, Pablo Chiaradía
Ocular features are more commonly reported in EEC syndrome when compared to the other ectodermal dysplasias. However, few reports have focused on the progressive keratopathy in EEC syndrome. Lacrimal drainage abnormalities, recurrent corneal epithelial defects, corneal ulceration, corneal neovascularization, dry eye symptoms, conjunctivitis, and absence of Meibomian glands have been reported.4 Cicatrizing conjunctivitis with anti-basement membrane autoantibodies has been described and would provide a justification for the use of systemic immunosuppression.5