Clinical Genetics · 1982 · 19 citations · 4 references
MedicinePathologyGenodermatosesMaxillofacial PathologyPediatric Speech-language PathologyCleft Palate AnatomyCongenital Cranial AnomaliesCongenital Craniofacial AnomaliesCongenital Malformation PathologyCongenital MalformationsCongenital Oral AnomaliesCatel-manzke SyndromeCleft Palate PathogenesisCleft Palate SyndromesCongenital Heart Disease PathophysiologyCongenital Mandibular DefectsCraniofacial DysmorphogenesisMandibular MalformationsSyndromic Cleft Palate
Mandibular hypoplasia, glossoptosis, U‐shaped cleft palate (Pierre Robin anomaly), associated with bilateral index finger malformation and congenital heart disease are described in a male, newborn infant. Review of the features of seven previously published patients, in addition to the patient reported here, confirms the existence of a distinct dysmorphogenesis syndrome. Although all of these eight patients have been males, and most were sporadic, the etiology of this rare malformation syndrome is unknown.
4
[The Pierre Robin syndrome: unusual associated developmental defects].
W Holthusen · PubMed · 1972 · 20 citations