Ectrodactyly also known as Split hand/foot malformation is a rare limb malformation with autosomal dominant in heritance with variable penetrance, commonly known as "lobster claw hand". Usually it involves midline clefts of the hands and feet with syndactyly. We report a neonate with ectrodactyly and brief review of literature of condition.
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http://dx.doi.org/10.4103/2249-4847.120013 | DOI Listing |
Int J Mol Sci
October 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Front Immunol
October 2024
Division of Immunology, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, United States.
Indian J Dent Res
January 2024
Department of Obstetrics and Gynecology, Balaji Dental and Craniofacial Hospital, Chennai, Tamil Nadu, India.
Rationale: This case report presents a rare combination of congenital anomalies in an otherwise healthy male infant born at 36 weeks. The infant was diagnosed with congenital maxillomandibular synechia, ectrodactyly, and ankyloglossia superior syndrome (ASS).
Patient Concerns: Inability to open the mouth completely, feeding challenges, and a cleft palate.
Semin Ophthalmol
February 2025
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.
J Neonatal Perinatal Med
July 2023
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
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.
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