Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies

• Published in: American journal of medical genetics Vol. 59; no. 3; p. 341
• Main Authors: Hersh, J H, Dela Cruz, T V, Pietrantoni, M, von Drasek-Ascher, G, Turnquest, M A, Yacoub, O A, Joyce, M R
• Format: Journal Article
• Language: English
• Published: United States 20.11.1995
• Subjects: Abnormalities, Multiple - embryology; Abnormalities, Multiple - genetics; Extremities - embryology; Foot Deformities, Congenital - embryology; Foot Deformities, Congenital - genetics; Genes, Dominant; Hamartoma - genetics; Hand Deformities, Congenital - embryology; Hand Deformities, Congenital - genetics; Heart Septal Defects - genetics; Humans; Infant, Newborn; Intellectual Disability - genetics; Male; Parotid Gland - abnormalities
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320590312

Mirror image duplication of the hands and feet is a rare entity. Based on 3 previous reports, findings include nasal abnormalities, dimelia of ulna and fibula, tibial hypoplasia and mirror image duplication of hands and feet. We report on a sporadic case in which mirror image duplication was associated with multiple congenital anomalies. Although these cases may represent variable expression of the same dominantly transmitted complex polysyndactyly syndrome, it is possible that mirror image duplication of the hands and feet is a manifestation common to a number of distinct clinical entities. During limb bud development, duplication and aberrant positioning of the zone of polarizing activity in relation to the apical ectodermal ridge may account for the anatomic abnormalities of the hands and feet in these patients.