Clinical Dysmorphology · 1993 · 34 citations · 0 references
MedicineObstetricsPediatricsDevelopmental PediatricsHuman GeneticsPediatric GeneticsCongenital DisordersCongenital Head AnomaliesCongenital Malformation PathologyCongenital MalformationsCongenital Organ DefectsFetal AnomaliesAutosomal Recessive InheritanceCleft Lip SyndromesCleft Palate SyndromesCongenital Cleft LipCongenital Craniofacial Anomalies GeneticsDwarfism SyndromesIntrauterine Fetal DeathPeters Anomaly
Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.