88 Robin Sequence
Robin Sequence 851
Pierre-Robin syndrome
Glossoptosis, micrognathia, cleft palate
Frequency: Varying from 1 in 2,000 to 1 in 30,000 births (depending on diagnostic criteria adopted).
Genetics
There are probably autosomal recessive (OMIM 261800) and X-linked (OMIM 311900) isolated forms of Robin sequence; recurrence risk very low in sibs of patients with nonsyndromic Pierre-Robin sequence.
Clinical Features
• Glossoptosis, airway obstruction
• Mandible small, symmetrically receding
• U-shaped cleft palate
• Neonatal feeding problems, respiratory distress
• Esotropia, congenital glaucoma, microphthalmia
• Heart disease (15–25%)
• Brain damage secondary to hypoxia
• Abnormalities of the underlying syndrome Differential Diagnosis
• May be part of several specific syndromes (25% of cases), particularly Stickler syndrome and velo- cardiofacial syndrome; may also occur in associa- tion with multiple anomalies (35%)
Radiographic Features Skull
• Hypoplasia of the mandible
• Cleft palate Limbs
• Hypoplastic digits, Poland anomaly, syndactyly
• Limb reduction defects
• Talipes equinovarus
• Hip dislocation Spine
• Posterior and anterior arch defects of the atlas
• Atlanto-axial instability
Bibliography
Cohen MM. Robin sequences and complexes: causal hetero- geneity and pathogenetic/phenotypic variability. Am J Med Genet 1999; 84: 311–5
Elliott MA, Studen-Pavlovich DA, Ranalli DN. Prevalence of se- lected pediatric conditions in children with Pierre-Robin sequence. Pediatr Dent 1995; 17: 106–11
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-
ti MS. Difetti congeniti e sindromi malformative. McGraw- Hill, Milan, 1990
Sheffield LJ, Reiss JA, Strohm K, Gilding M. A genetic follow up of 64 patients with the Pierre Robin complex. Am J Med 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
Robin Sequence 852
Fig. 88.1. Patients a 1 and b 2, both newborns. Small, symmet- rically receding mandible, and U-shaped cleft palate. (Reprint- ed, with permission, from Mastroiacovo et al. 1990)
a
b
Fig. 88.2 a–c. Patients 3 (a, b) and 4 (c), both newborns.
Note severe retromicrognathia, cleft palate, and absent atlas in patient 3 (a)
a
b
c
