Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3354781 | PMC |
http://dx.doi.org/10.4103/0976-237X.95120 | DOI Listing |
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
October 2024
Division of Ophthalmology, Children's Hospital of Philadelphia.
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFJ Family Med Prim Care
November 2024
Department of Internal Medicine, University of Minnesota, Minneapolis, MN, United States.
Ectodermal dysplasia (ED) is a spectrum of inherited disorders that compromise the development and function of ectodermal structures, like hair, nails, and teeth. This case report describes a 17-year-old male with sparse hair and cognitive difficulties who was diagnosed with ED in childhood. A multidisciplinary evaluation with dermatology, neurology, and dentistry revealed characteristic clinical features, and the histopathological diagnosis was confirmed via punch biopsy.
View Article and Find Full Text PDFHypomelanosis of Ito (HI), a neurocutaneous syndrome, is characterized by skin depigmentation and skeletal, muscular, central nervous system, cardiac, and renal manifestations. A wide variety of cutaneous manifestations besides depigmentation have been reported. Herein we describe a 23-year-old woman with HI whose extracutaneous symptoms included severe mental and motor impairment, convulsions, and deformity of the orofacial region.
View Article and Find Full Text PDFPediatr Int
December 2024
Center for Perinatal and Neonatal Medicine, Tohoku University Hospital, Sendai, Miyagi, Japan.
Background: Clinical studies have shown that diffuse chorioamniotic hemosiderosis (DCH) is a risk factor for bronchopulmonary dysplasia (BPD). However, the details of the underlying mechanism are unknown. We focused on iron, one of the blood components that diffuses within the amniotic cavity in DCH.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!