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
• ISSN: 0165-5876; 1872-8464
• DOI: 10.1016/S0165-5876(02)00278-1

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 out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.