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EEC syndrome. Three-dimensional ultrasound in rendering mode demonstrates the lobster-claw feet (white arrows).
Source publication
THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be...
Citations
... Further, the majority of published case reports describe fetuses with classic findings of cleft lip and palate, or clefting of the hands and feet, but no identifiable GU anomalies. (Anneren, Andersson, Lindgren, & Kjartansson, 1991;Bronshtein & Gershoni-Baruch, 1993;Kohler, Sousa, & Jorge, 1989;Leung, MacLachlan, & Sepulveda, 1995;Rios et al., 2012;Yang, Huang, Han, & Li, 2017). ...
Background
Ectrodactyly‐ectodermal dysplasia‐clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under‐recognized and under‐reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies.
Methods
We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the termination of pregnancy, examination and autopsy further revealed unilateral polydactyly and bilateral syndactyly which had not been previously identified on antenatal ultrasound.
Results
Whole‐exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the TP63 gene: p.His247Arg: c.740A>G (NM_003722.4) which has been reported in the literature. The His247Arg variant has been published as a pathogenic variant in association with EEC, both with and without orofacial clefting.
Conclusion
Our prenatal case expands the phenotypic spectrum of TP63‐related disorders in general. In addition, it adds to the phenotype associated with the His247Arg pathogenic variant responsible for EEC. Further, we highlight the importance of WES as a postnatal tool to help clarify unexpected findings, and as a way to add to the spectrum of existing phenotypes of known single‐gene disorders.
... Ultrasonografik değerlendirmede ektrodaktiliden şüphelenilirse özellikle yarık damak-dudak açısından fetal yüz mutlaka değerlendirilmeli ve ek anomalilerin varlığı açısından fetüsün ayrıntılı değerlendirmesi yapılmalıdır. 2D ultrasonografi tanıda genellikle yeterlidir ancak ultrasonografi teknolojisindeki ilerlemelere paralel olarak 3D ultrasonografi ile tanısı koyulan olgularda bildirilmiştir (13). 3D ultrasonografi ile anomalinin ciddiyeti daha iyi belirlenebilir ve prognoz hakkında aileye daha kaliteli danışmanlık verilebilir ancak şu an için 3D ultrasonografi ile tanı koyulan birkaç olgu bildirilmiştir ve 2D ultrasonografi ile 3D ultrasonografinin tanıdaki yerini karşılaştıran bir çalışma bulunmamaktadır (14). ...
... Patients who are diagnosed to have EEC on physical examination, mutational gene analysis of the TP63 gene should be the priority test and if it shows negative results then other test for diagnosing chromosomal abnormalities should be considered. Antenatal diagnosis is feasible using the molecular genetic testing and samples are obtained using chorionic villus sampling, which should be performed if there is suspicion on fetal ultrasound (32). Treatment is largely supportive and involves managing the various anomalies and involves a team of health care personal. ...
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.
... [3] For prenatal diagnosis of SHSF, three-dimensional ultrasonography is very useful. [4] Most of the patients live a normal life with very little functional impairment of limbs. [5] We have identified and described a large family, which has been affected by this rare anomaly involving both hands and feet. ...
Introduction: Split hand/foot (SHSF) malformation is characterized by variable suppression of central digital rays. It is a rare congenital hand and foot anomaly usually showing autosomal dominant pattern of inheritance. We report this rare anomaly of hand and foot in a family with 13 cases to discuss its inheritance pattern and clinical features. Observation: One family of 27 members has been identified in which 13 members are affected. The disease has been running dominantly in the family and variably affecting both males and females. Morphologically there is partial or complete absence of central second to fourth digital rays with variable syndactyly and bony changes in adjacent rays. Conclusion: SHSF malformation is type of longitudinal arrest of development of central digital rays. Various theories regarding causation of disease have been proposed. The presentation of disease varies due to varying severity of involvement. Early appropriate surgical intervention is essential in selected cases to achieve a good functional limb.
Ectodermal dysplasias manifest congenital defects in two or more ectodermal structures. Often, they show alterations in the skin, hair, nails and eccrine or seborrhoeic glands. There are more than 200 different entities which have to be separated in this disease group. The confirmation of these heterogeneous and very rare clinical diseases is done nowadays by molecular genetics.
Ectodermal dysplasias, a large group of heterogeneous heritable conditions, are characterized by congenital defects in two or more ectodermal structures, involving at least one in the hair (trichodysplasia), teeth (dental defects), nails (onychodysplasia) or sweat glands (hypohidrosis). Of the approximately 220 different ectodermal dysplasias, about 80 have been identified at the molecular level with the identification of the causative genes. Recent evidence implicates genetic defects in different key pathways orchestrating ectodermal organogenesis.
EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract. We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.
EEC syndrome is an ectodermal dysplasia syndrome associated with ectrodactyly and cleft lip/palate.
