Ectrodactyly

09/01/2008 - "Low dose lipid base ointment application may be a promising treatment modality for the ocular surface disease in ectrodactyly-ectodermal dysplasia (EEC)-clefting syndrome, which seems to help in alleviating the subjective complaints and in improving the objective clinical findings."
03/01/2013 - "Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome."
01/01/2012 - "In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-related disorders: EEC, Ectrodactyly-ectodermal dysplasia (EE), isolated ectodermal dysplasia, and isolated Split Hand/Foot Malformation type 4 (SHFM4). "
07/01/2007 - "The authors' study identified a subset of patients within the cleft clinic who carry the diagnosis of ectrodactyly-ectodermal dysplasia-clefting syndrome. "
06/01/2015 - "The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. "

03/01/2015 - "Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. "
10/01/2012 - "We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. "
10/01/2012 - "He presented with bilateral ectrodactyly of the hands (both hands had four fingers with a deep gap between the 2nd and 3rd digits), cleft lip and palate, and a depressed nasal bridge. "
02/15/2010 - "While the findings in these patients overlap with previously described genetic conditions, the similarity in phenotypes among these patients has led to the establishment of a at least one distinct syndrome: HPE, ectrodactyly, and bilateral cleft lip-palate syndrome (OMIM 300571). "
01/01/2000 - "In this report we describe a prenatally diagnosed case with four-limb ectrodactyly and cleft lip/palate. "

03/01/2013 - "Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). "
09/15/1991 - "Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery."

03/01/2013 - "Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). "

10/15/2014 - "Taken together, Fingerin gene dosage links two different congenital limb malformations, syndactyly and ectrodactyly, which were previously postulated to share a common etiology. "
09/01/2014 - "The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. "
01/01/2013 - "Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. "
02/01/2011 - "The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. "
10/01/2009 - "Seventeen hand or foot malformations were present in 9 patients, consisting of: toe macrodactyly in 5 patients (two bilateral and one with plantar expansion); toe microdactyly in one patient; finger macrodactyly in one patient; finger macrodactyly and ectrodactyly in one patient; syndactyly in 4 patients; and clinodactyly with camptodactyly of the hand of one patient with lower limb KTS. "