Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature

• Published in: International journal of pediatric otorhinolaryngology Vol. 66; no. 3; pp. 309 - 313
• Main Authors: Johnson, Steven E, Tatum, Sherard A, Thomson, Laura L
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Ireland Ltd 02.12.2002; Elsevier
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - surgery; Biological and medical sciences; Cleft Palate - complications; Cleft Palate - diagnosis; Cleft Palate - surgery; Complex syndromes; Ectodermal Dysplasia - complications; Ectodermal Dysplasia - diagnosis; Ectodermal Dysplasia - surgery; Ectrodactyly-ectodermal dysplasia-clefting; Follow-Up Studies; Humans; Infant, Newborn; Male; Medical genetics; Medical sciences; Myringoplasty - methods; Pierre Robin; Pierre Robin Syndrome - complications; Pierre Robin Syndrome - diagnosis; Pierre Robin Syndrome - surgery; Reconstructive Surgical Procedures - methods; Risk Assessment; Syndactyly - complications; Syndactyly - diagnosis; Syndrome; Ectrodactyly-ectodermal dysplasia-clefting; Pierre Robin; Syndrome; Human; Case study; Concomitant disease; Newborn; Pierre Robin syndrome; Male; Ectrodactyly-ectodermal dysplasia-clefting syndrome; Bibliographic review

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with...