88 Robin Sequence R

Robin Sequence 851

88 Robin Sequence

Pierre-Robin syndrome Radiographic Features Skull Glossoptosis, micrognathia, cleft palate • Hypoplasia of the mandible • Cleft palate Frequency: Varying from 1 in 2,000 to 1 in 30,000 Limbs births (depending on diagnostic criteria adopted). • Hypoplastic digits, Poland anomaly, syndactyly • Limb reduction defects Genetics • Talipes equinovarus There are probably autosomal recessive (OMIM • Hip dislocation 261800) and X-linked (OMIM 311900) isolated forms Spine of Robin sequence; recurrence risk very low in sibs of • Posterior and anterior arch defects of the atlas patients with nonsyndromic Pierre-Robin sequence. • Atlanto-axial instability

Clinical Features • Glossoptosis, airway obstruction Bibliography • Mandible small, symmetrically receding • U-shaped cleft palate Cohen MM. Robin sequences and complexes: causal hetero- • Neonatal feeding problems, respiratory distress geneity and pathogenetic/phenotypic variability.Am J Med • Genet 1999; 84: 311–5 Esotropia, congenital glaucoma, microphthalmia Elliott MA,Studen-Pavlovich DA,Ranalli DN.Prevalence of se- • Heart disease (15–25%) lected pediatric conditions in children with Pierre-Robin • Brain damage secondary to hypoxia sequence. Pediatr Dent 1995; 17: 106–11 • Abnormalities of the underlying syndrome Gorlin RJ, Cervenka J, Anderson RC, Sauk JJ, Bewis WD. Robin’s syndrome. Am J Dis Child 1970; 119: 176–8 Mastroiacovo P,Dallapiccola B,Andria G,Camera G,Lungarot- Differential Diagnosis ti MS. Difetti congeniti e sindromi malformative. McGraw- • May be part of several speciﬁc syndromes (25% of Hill, Milan, 1990 cases), particularly Stickler syndrome and velo- Shefﬁeld LJ, Reiss JA, Strohm K, Gilding M.A genetic follow up cardiofacial syndrome; may also occur in associa- of 64 patients with the Pierre Robin complex. Am J Med tion with multiple anomalies (35%) Genet 1987; 28: 25–36 Singh RP,Jaco NT,Vigna V.Pierre-Robin syndrome in siblings. Am J Dis Child 1970; 120: 560–1 Smith JL, Stowe FR. The Pierre Robin syndrome (glossoptosis, micrognathia, cleft palate). A review of 39 cases with em- phasis on associated ocular lesions. Pediatrics 1961; 27: 128–33

R 852 Robin Sequence

b c

Fig. 88.1. Patients a 1 and b 2, both newborns. Small, symmet- Fig. 88.2 a–c. Patients 3 (a, b) and 4 (c), both newborns. rically receding mandible, and U-shaped cleft palate. (Reprint- Note severe retromicrognathia, cleft palate, and absent atlas in ed, with permission, from Mastroiacovo et al. 1990) patient 3 (a)